Gene Summary

signal transducer and activator of transcription 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.83×10-06
increased neutrophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.01×10-12
decreased circulating alkaline phosphatase level Stat1tm2b(EUCOMM)Wtsi HOM Early adult 5.25×10-06
decreased mean corpuscular volume Stat1tm2b(EUCOMM)Wtsi HOM Early adult 8.67×10-19
increased large unstained cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.54×10-07
increased lymphocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.56×10-10
increased eosinophil cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.78×10-09
enlarged lymph nodes Stat1tm2b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.49×10-12
decreased bone mineral content Stat1tm2b(EUCOMM)Wtsi HOM   Early adult 4.71×10-05
abnormal gait Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
decreased lymphocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 2.37×10-10
impaired righting response Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
increased leukocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 5.16×10-10
increased monocyte cell number Stat1tm2b(EUCOMM)Wtsi HOM Early adult 1.69×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection


3 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Stat1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Stat1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stat1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Immunodeficiency 53
Recurrent respiratory infections, Recurrent infections, Recurrent otitis media OMIM:617585
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Delayed femoral head ossification, Enlarged tonsils, Leukocytosis, Multicentric fe... ORPHA:168621
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... OMIM:613860
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... ORPHA:1802
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Immunodeficiency 20
Severe varicella zoster infection, BCGitis, Reduced natural killer cell activity, Recurrent oral ... OMIM:615707
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... OMIM:615897
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Bowing of the long bones, Osteolysis OMIM:174810
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Tapered finger, Abnormal cortical bone morphology, Osteolysis, Abnormal hip ... ORPHA:970
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... OMIM:608106
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Impaired pain sensation, Lymphopenia, Eosinophilia ORPHA:2582
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia OMIM:615561
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Abnormality of the fifth metatarsal bone, Flattened met... ORPHA:564003
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Adult Acute Respiratory Distress Syndrome
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... ORPHA:70578
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess OMIM:618108
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology ORPHA:2028
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit... OMIM:615978
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Elevated circulating creatine kinase concentr... ORPHA:36234
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... OMIM:300310
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... OMIM:300400
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... ORPHA:319552
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Respiratory tract infection, Atelectasis, Pulmonary edema, Cardiac arrest,... ORPHA:70587
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Eosinophilia ORPHA:482
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Abnorm... ORPHA:668
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Diarrhea, Abnormality of serum cytokine level, Elevated hepatic transaminase, Heart ... ORPHA:542323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Hyaline Fibromatosis Syndrome
Flexion contracture, Progressive flexion contractures, Osteolysis, Osteopenia, Osteoporosis OMIM:228600
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... OMIM:607115
Caffey Disease
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... OMIM:114000
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... OMIM:226990
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... ORPHA:3344
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Immunodeficiency 104
Recurrent opportunistic infections, Gastroesophageal reflux, T lymphocytopenia, Diarrhea, Eczema,... OMIM:608971
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... OMIM:609655
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity OMIM:608898
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Osteolysis, Osteoporosis, Splenomegaly ORPHA:100024
Cyclic Neutropenia
Respiratory tract infection, Enterocolitis, Perianal abscess, Periodontitis, Opportunistic infect... ORPHA:2686
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Difficulty walking, Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Recurrent bacterial infect... OMIM:608184
Gorham-Stout Disease
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Osteolysis involving bones... ORPHA:73
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis OMIM:300455
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... OMIM:612692
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Unusual CNS infection, Pleural effusi... ORPHA:228119
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Osteolysis of talus, Synovitis, Osteolysis of patellae, Osteolysis of scaph... ORPHA:50809
African Iron Overload
Hepatic fibrosis, Hepatitis, Chronic infection, Elevated transferrin saturation, Hepatocellular c... ORPHA:139507
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Combined Immunodeficiency Due To Dock8 Deficiency
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymph... ORPHA:217390
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive T cells, Decreased prop... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... OMIM:618849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... ORPHA:275
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Osteopenia, Eosinophilia, Mono... ORPHA:486
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Unsteady gait, Eosinophilia OMIM:618092
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Slender long bone, Limitation of joint mobility, Metacarpal osteolysis, ... ORPHA:2774
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Halothane Hepatitis
Eosinophilia OMIM:234350
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Short foot, Abnormal cortical bone morphology, Limitation of joint mobili... ORPHA:166277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Systemic Capillary Leak Syndrome
Hypotension, Pedal edema, Diarrhea, Pulmonary edema, Multiple myeloma, Pleural effusion, Pericard... ORPHA:188
Sickle Cell Anemia
Elevated circulating creatinine concentration, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:232
Necrotizing Enterocolitis
Hypotension, Bloody diarrhea, Vomiting, Neonatal sepsis, Diarrhea, Apnea, Shock, Edema, Thrombocy... ORPHA:391673
Ollier Disease
Osteolysis, Joint stiffness, Anemia, Abnormal metaphysis morphology ORPHA:296
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly OMIM:615387
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Intrinsic Factor Deficiency
Reduced haptoglobin level, Somatic sensory dysfunction, Megaloblastic anemia, Paresthesia, Increa... OMIM:261000
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Osteopetrosis, Autosomal Dominant 1
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Thi... OMIM:607634
Bloody diarrhea, Abnormal blood ion concentration, Hyponatremia, Dehydration, Thrombocytopenia, P... ORPHA:810
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Diarrhea, Recurrent herpes, Hepatitis, De... ORPHA:169160
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... OMIM:193670
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormality of tibia morphology, ... ORPHA:1525
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Peritonitis, Abnormality of the ovary, Basal cell carcinoma, ... ORPHA:314473
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormality of l... ORPHA:2204
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Diarrhea, Neu... OMIM:607594
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Elevated circulating C-react... OMIM:619644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... OMIM:601457
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization,... ORPHA:93160
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Recurrent ... OMIM:607271
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Abnormal natural killer cell ... OMIM:613101
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Familial Mediterranean Fever
Crohn's disease, Vomiting, Diarrhea, Arthritis, Pleuritis, Neutrophilia, Chronic constipation, Er... OMIM:249100
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Bronchiectasis, Decreased circulating total IgM, Asthma, Seve... OMIM:617638
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:616050
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... ORPHA:75249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dermatoosteolysis, Kirghizian Type
Osteolysis, Abnormal diaphysis morphology, Brachydactyly, Abnormal metaphysis morphology, Tarsal ... ORPHA:1657
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... ORPHA:444463
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... ORPHA:911
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... OMIM:209920
Decreased eosinophil count OMIM:131430
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Pyle Disease
Thin bony cortex, Genu valgum, Limited elbow extension, Metaphyseal dysplasia, Metaphyseal wideni... OMIM:265900
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Limitation of joint mobility, Osteolysis, Localized osteoporosis, ... ORPHA:66627
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... OMIM:602080
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent Haemophilus influenzae infections, Diarrhea, Hepatomegaly, Decreased proportion of CD4-... ORPHA:276
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, A... ORPHA:57777
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:616636
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... ORPHA:75508
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi... ORPHA:2552
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Septic arthritis, Brain abscess, Diarrhea, Unusual CNS infection, Pericarditis, Meningitis, Pneum... ORPHA:533
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Pancytope... OMIM:159550
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c... OMIM:619707
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Diarrhea, Fasciitis, Pericarditis, Myositis, Intestinal obstruction, Orchitis, Splenomegaly, Skin... ORPHA:32960
Omenn Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology ORPHA:39041
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Arthritis, Acrocyanosis, Increased circulating IgA level... ORPHA:343
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Abnormal circulating lipid concentration, Respiratory tract infection, Minima... ORPHA:567548
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Osteopenia, Craniosynostosis, Cutaneous abscess, Eosinophilia OMIM:147060
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Caffey Disease
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... ORPHA:1310
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Eosinophilic Fasciitis
Paresthesia, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Brain abscess, Pneumothorax, Scleritis, Productive cough, Unusual CNS infection, Pericarditis, Pl... ORPHA:31204
Immunodeficiency 52
Persistent EBV viremia, Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased ci... OMIM:617514
Brain abscess, Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Osteolysis, Gas... ORPHA:73263
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Peritonitis, Abnormality of the ovary, Pleural effusion, Hi... ORPHA:314478
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Recurre... ORPHA:2968
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Unusual CNS infection, Exudative pleural effusion, Pericarditis, Osteolysis, Panniculitis, Eosino... ORPHA:228123
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Osteomyelitis, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Abnormal... ORPHA:324964
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lym... ORPHA:331206
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Eosinophilia, Decreased proportion of CD4-positive helper T cells OMIM:243700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
O'Sullivan-Mcleod Syndrome
Somatic sensory dysfunction, Tremor, Eosinophilia ORPHA:99965
Budd-Chiari Syndrome
Cirrhosis, Peritonitis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Intestinal obstru... ORPHA:131
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Craniosynostosis, Eosinophilia OMIM:618523
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Osteolysis Syndrome, Recessive
Knee flexion contracture, Elbow flexion contracture, Metacarpal osteolysis, Distal radial epiphys... OMIM:259610
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Burkitt lymphoma, Reduced natural killer cell activity, Decreased circulating antibody ... OMIM:308240
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Ramon Syndrome
Osteolysis ORPHA:3019
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Genetic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Minimal change glomerulonephritis, Edema, Periorbital edema, Periton... ORPHA:656
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Malignant Peritoneal Mesothelioma
Pedal edema, Peritonitis, Dyspnea, Neoplasm, Ascites, Ileus ORPHA:168811
Cirrhosis, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leuk... ORPHA:1546
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Recurrent fractures, Pseudoarthrosis, Slender long bone, Multiple prenatal frac... OMIM:619795
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Increa... OMIM:618534
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Recurrent infections, Recurrent respiratory infec... OMIM:137100
Hemorrhagic Fever-Renal Syndrome
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepatic transaminase, Shock, ... ORPHA:340
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Eosinophi... OMIM:304790
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Ataxia, Intention tremor OMIM:266130
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Frank-Ter Haar Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Osteolys... ORPHA:137834
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:166600
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... OMIM:144750
Anemia, Neutropenia, Splenomegaly OMIM:602079
Familial Mediterranean Fever
Pedal edema, Splenomegaly, Diarrhea, Skin rash, Arthritis, Pleuritis, Erysipelas, Pericarditis, M... ORPHA:342
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... ORPHA:2635
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Familial Mediterranean Fever, Autosomal Dominant
Pleuritis, Peritonitis, Erysipelas OMIM:134610
Polyhydramnios, Alopecia, Hypoventilation, Decreased circulating total IgM, Pulmonary edema, Decr... ORPHA:79330
Idiopathic Achalasia
Bronchitis, Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, ... ORPHA:930
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... OMIM:614069
Respiratory insufficiency, Increased circulating lactate dehydrogenase concentration, Exertional ... ORPHA:723
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Lymphadenopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Infantile Myofibromatosis
Osteolysis, Abnormal metaphysis morphology, Limitation of joint mobility, Bone cyst ORPHA:2591
Microscopic Polyangiitis
Diarrhea, Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Ep... ORPHA:727
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Hemo... OMIM:603552
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Femoral bowing, Broad thumb OMIM:619638
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Pedal edema, Hemothorax, Exertional dyspnea, Pulmon... ORPHA:199241
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent ductus arteriosus, Systolic heart murmur, Hypocapnia, Cya... ORPHA:980
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... OMIM:618944
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... OMIM:115197
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Staphylococcal Necrotizing Pneumonia
Hypotension, Pneumothorax, Pleural effusion, Shock, Pneumonia, Nonproductive cough, Sepsis, Sever... ORPHA:36238
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Autoimmune Lymphoproliferative Syndrome, Type Iii
Persistent EBV viremia, Absent isohemagglutinin level, Reduced natural killer cell activity, Recu... OMIM:615559
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia OMIM:616651
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Microangiopathic hemolytic ... ORPHA:90038
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... ORPHA:183675
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Recurrent bacterial infections, Agammaglobulinemia, Seborrheic dermatitis OMIM:619693
Avian Influenza
Pneumothorax, Diarrhea, Productive cough, Elevated hepatic transaminase, Elevated circulating cre... ORPHA:454836
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:2902
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Thymic Aplasia
Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, Pneumonia, Sepsi... ORPHA:83471
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... OMIM:607676
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent fungal infections, Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Recurre... ORPHA:572
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrop... OMIM:617300
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:859
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Aggressive Systemic Mastocytosis
Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Incre... ORPHA:98850
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Idiopathic Bronchiectasis
Respiratory tract infection, Recurrent Haemophilus influenzae infections, Bronchiectasis, Product... ORPHA:60033
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Liver Disease, Severe Congenital
Systolic heart murmur, Diarrhea, Elevated hepatic transaminase, Eczema, Portal inflammation, Elev... OMIM:619991
Primary Peritoneal Carcinoma
Peritonitis, Neoplasm, Constipation ORPHA:168829
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia OMIM:229050
Immunodeficiency 92
Osteomyelitis, Chronic diarrhea, B lymphocytopenia, Recurrent oral herpes, Lymphocytosis, Scleros... OMIM:619652
Acute Peripheral Arterial Occlusion
Impaired distal tactile sensation, Paresthesia, Leukocytosis ORPHA:90064
Grant Syndrome
Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone ... ORPHA:2097
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... ORPHA:3392
Septic arthritis, Unusual CNS infection, Pericarditis, Bronchial breath sound, Pneumonia, Sepsis,... ORPHA:449280
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Gait disturbance, Pancytopenia, Ab... ORPHA:2585
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 27A
Anemia, Diarrhea, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, Increased infl... OMIM:209950
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Fibular bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Eosinophilia, Hematological ... ORPHA:1163
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:615285
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune hemolytic anemi... ORPHA:100026
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... OMIM:166260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... OMIM:307200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Increased susceptibility to fractures, Arthritis, Osteolysis involving bones of the upper limbs, ... ORPHA:371428
Complement Factor I Deficiency
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... OMIM:610984
Ethylene Glycol Poisoning
Hypotension, Episodic respiratory distress, Cyanosis, Vomiting, Cerebral edema, Pulmonary edema, ... ORPHA:31826
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Cholestasis, Prolonged neo... OMIM:231100
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased susceptibility to fractures, Abnormal long bone morphology, Osteolysis, Calvarial hyper... ORPHA:52430
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Neonatal Alloimmune Neutropenia
Severe infection, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Meningitis, Pne... ORPHA:464370
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Pulmonary edema, Enlarged polycystic ovaries, Pleural effu... ORPHA:64739
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Splen... OMIM:612852
Isolated Agammaglobulinemia
Anemia, Sepsis, Recurrent respiratory infections, Diarrhea, Skin rash, Inflammatory abnormality o... ORPHA:229717
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:600081
Classic Hodgkin Lymphoma
Osteolysis, Splenomegaly ORPHA:391
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Pachygyria, Polymicrogyria OMIM:609528
Fibrous Dysplasia Of Bone
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... ORPHA:249
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia, Hyponatremia OMIM:616949
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Diarrhea, Elevated hepatic transaminase, Hepat... ORPHA:79124
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Chronic diarrhea, Thrombocytopenia, Pneumonia, Sple... OMIM:614700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sin... OMIM:616576
Immunodeficiency 23
Somatic sensory dysfunction, Hemolytic anemia, Lymphopenia, Ataxia, Eosinophilia, Neutropenia, Ab... OMIM:615816
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentra... OMIM:617388
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cyanosis, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Short... OMIM:261740
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Widow's peak, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motili... OMIM:266265
Hemochromatosis, Type 3
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... OMIM:604250
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... OMIM:601495
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... OMIM:308230
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Hellp Syndrome
Hypotension, Vomiting, Hemolytic anemia, Cerebral hemorrhage, Pulmonary edema, Microangiopathic h... ORPHA:244242
Cocaine Intoxication
Hypotension, Bloody diarrhea, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventric... ORPHA:90068
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Peritoneal Cystic Mesothelioma
Peritonitis, Neoplasm, Constipation ORPHA:168816
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Atopic dermatitis, Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiect... OMIM:618282
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Cirrhosis, Bronchiectasis, H... OMIM:613490
Riddle Syndrome