Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Failure to thrive, Recur... |
OMIM:614372 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Short stature, Recurrent otitis media, Failure to thrive, Recurrent bacterial infections, Recurre... |
OMIM:616022 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Unsteady gait, Eosinophilia, Anxiety |
OMIM:618092 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... |
OMIM:613953 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... |
OMIM:300310 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
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 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... |
OMIM:613496 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Failure to thrive, R... |
OMIM:613501 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... |
OMIM:615897 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bact... |
OMIM:613779 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Growth delay |
OMIM:615468 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... |
OMIM:608106 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... |
ORPHA:275 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... |
ORPHA:319552 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Difficulty walking, Eosinophilia |
OMIM:253600 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Diss... |
OMIM:243700 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Petechiae, Hematuria, Elevated circulating creatine kinase concentration, Pericarditi... |
ORPHA:231111 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased circulating beta-2-... |
ORPHA:572 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Recurrent bacterial infections, Thi... |
OMIM:609814 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Thymic Aplasia |
|
Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningi... |
ORPHA:83471 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:612692 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... |
OMIM:240500 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine concentration |
OMIM:617872 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... |
OMIM:613860 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly |
OMIM:607115 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Irritability, Ataxia, Athetosis, Thrombocytopenia, Neutropenia, Folate-responsive meg... |
OMIM:229050 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Failure to thrive, Increased ... |
OMIM:613845 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Recurrent urinary tract infections, Cerebral vasculitis, Abno... |
OMIM:613179 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:615387 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612926 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... |
OMIM:607594 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612924 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... |
ORPHA:183675 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count |
OMIM:618394 |
Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Psoriasiform dermatitis, Weight loss, Acute kidney injury, Deep dermal p... |
ORPHA:49041 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Recurrent opportunist... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Recurrent bacterial infect... |
OMIM:608184 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... |
OMIM:307200 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Failure to thrive, Recurrent bacterial infectio... |
OMIM:618048 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... |
OMIM:308230 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Abnormality of serum cytoki... |
ORPHA:94059 |
Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... |
OMIM:603554 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Omenn Syndrome |
|
Anemia, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:39041 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent... |
ORPHA:911 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Hypertension, Membranoproliferative glomerulonephritis, Increased... |
ORPHA:251004 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Eosinophilia |
ORPHA:2070 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Anxiety, Thrombocytopenia |
OMIM:301080 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome... |
ORPHA:444463 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Sterile abscess, Cutaneous abscess, Eosinophilia |
OMIM:618282 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia |
OMIM:615561 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Ataxia, Eosinophilia, Neutropenia, Abscess |
OMIM:615816 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Complement Factor I Deficiency |
|
Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections... |
OMIM:610984 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Eczematoid dermatitis, Agammaglobulinemia, Seb... |
OMIM:619693 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Transient ischemic attack, Abnormal renal physiology, Myocardial infar... |
OMIM:274150 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Hypertension, Abnormal renal physiology, Glomerular scler... |
OMIM:223900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Purpura, Hypertension, Increased blood ur... |
OMIM:235400 |
Immunodeficiency 84 |
|
Persistent EBV viremia, Recurrent bacterial infections, Perianal abscess |
OMIM:619437 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Bronchiectasis, Short stature, Recurrent bacterial infections, Recurrent ... |
OMIM:616005 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction ob... |
OMIM:154230 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Osteomyelitis, Recurrent mycobacter... |
OMIM:615978 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Dilated cardiomyopathy, Congestive heart failure, Eczema, E... |
OMIM:615895 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Chronic oral candidiasis, Recurrent respiratory infections, Th... |
OMIM:606367 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori infection, Rec... |
ORPHA:2688 |
Aspergillosis |
|
Neutropenia, Eosinophilia |
ORPHA:1163 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Increased blood urea nitrog... |
ORPHA:230 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Periodontitis, Recurrent gram-negative bacterial infections, Chronic mucocutaneous... |
OMIM:116920 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:617388 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
Mirage Syndrome |
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Aspiration pneumonia, Decreased body weight, Petechiae, Microphallus, Recurrent urinary tract inf... |
OMIM:617053 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphocytosis, Eosinophilia |
ORPHA:139402 |
Igg4-Related Aortitis |
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Hypereosinophilia |
ORPHA:449400 |
Cockayne Syndrome Type 1 |
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Conjunctivitis, Hypertension, Uveitis, Failure to thrive, Increased blood urea nitrogen, Proteinu... |
ORPHA:90321 |
Leukocyte Adhesion Deficiency |
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Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Recu... |
ORPHA:2968 |
Iga Pemphigus |
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Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Orthostatic Hypotension 1 |
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Nocturia, Increased blood urea nitrogen, Orthostatic hypotension, Hypomagnesemia, Atrial fibrilla... |
OMIM:223360 |
Specific Granule Deficiency 2 |
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Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Failure to thrive, S... |
OMIM:617475 |
Congenital Disorder Of Glycosylation, Type Iif |
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Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage,... |
OMIM:603585 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology |
ORPHA:1164 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hypercholesterolemia, Nephrolithiasis, Hyperuricemia, Enterocolitis, Periodontiti... |
ORPHA:79259 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Short stature, Enlarged kidney, Hypertension, Gout, Inflammation of the large inte... |
OMIM:232220 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233710 |
Idiopathic Bronchiectasis |
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Recurrent Haemophilus influenzae infections, Bronchiectasis, Cachexia, Myocardial infarction, Rec... |
ORPHA:60033 |
Lysinuric Protein Intolerance |
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Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... |
ORPHA:470 |
Hypocomplementemic Urticarial Vasculitis |
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Conjunctivitis, Glomerulopathy, Small vessel vasculitis, Skin rash, Inflammatory abnormality of t... |
ORPHA:36412 |
Cystic Echinococcosis |
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Peritoneal abscess, Abscess, Splenic cyst, Eosinophilia |
ORPHA:400 |
Leukocyte Adhesion Deficiency, Type Iii |
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Petechiae, Abnormal bleeding, Epistaxis, Recurrent bacterial infections, Recurrent skin infection... |
OMIM:612840 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:233690 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Scleroderma |
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Hypereosinophilia, Depression, Anxiety |
ORPHA:801 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Lethargy, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Eosinophilic Granulomatosis With Polyangiitis |
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Gait disturbance, Eosinophilia |
ORPHA:183 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, T lymphocytopenia, Inability to walk, Decreased proportion of CD8-positive T c... |
ORPHA:508533 |
Immunodeficiency 44 |
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Lymphopenia |
OMIM:616636 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eosinophilia |
ORPHA:2314 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Kenny-Caffey Syndrome, Type 1 |
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Birth length less than 3rd percentile, Recurrent bacterial infections, Hypocalcemia, Proportionat... |
OMIM:244460 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Recurrent fungal infections, Recurrent mycobacterial infections, Recurrent bacterial infections, ... |
ORPHA:169090 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Alveolar Echinococcosis |
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Anemia, Liver abscess, Abnormal spleen morphology, Cutaneous abscess, Ataxia, Eosinophilia |
ORPHA:284 |
Hemochromatosis, Type 3 |
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Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent respiratory infections, Periodontitis, Skin rash, ... |
ORPHA:167 |
Neutropenia, Severe Congenital, X-Linked |
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Recurrent bacterial infections, Eczema |
OMIM:300299 |
Vici Syndrome |
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Penile hypospadias, Decreased circulating IgG level, Decreased T cell activation, Postnatal growt... |
OMIM:242840 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Pulmonary embolism, Acute kidney injury, Hemoglobinuria, Glycosuria, U... |
ORPHA:447 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hyperphosphatemia, Severe intrauterine growth retardation, Recurrent bacterial infections, Hypoca... |
OMIM:241410 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent ear infections, Chronic oral candidiasis, Recurrent aspiration pneumonia, Recurrent uri... |
ORPHA:221139 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Immunodeficiency 87 And Autoimmunity |
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Pulmonary arterial hypertension, Recurrent fungal infections, Persistent EBV viremia, Third degre... |
OMIM:619573 |
Complement Component 5 Deficiency |
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Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections |
OMIM:609536 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia |
OMIM:158310 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Aggressive behavior, Irritability, Lymphopenia |
ORPHA:391307 |
Immunodeficiency 85 And Autoimmunity |
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Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
Idiopathic Hypereosinophilic Syndrome |
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Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
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Recurrent bacterial infections |
OMIM:610738 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Pulmonary arterial hypertension, Perianal abscess, Recurrent urinary tract infections, Urachus fi... |
OMIM:612541 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... |
OMIM:300539 |
Alport Syndrome 3, Autosomal Dominant |
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Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Lymphangiectasia, Intestinal |
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Lymphopenia |
OMIM:152800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, Pancytopenia, ... |
OMIM:619767 |
Primary Hyperoxaluria Type 1 |
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Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... |
ORPHA:93598 |
Incontinentia Pigmenti |
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Gait disturbance, Eosinophilia |
ORPHA:464 |
Noonan Syndrome 12 |
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Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Incontinentia Pigmenti |
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Leukocytosis, Eosinophilia |
OMIM:308300 |
Immunodeficiency 47 |
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Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating a... |
OMIM:300972 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Recurrent bacterial skin infections, Recurrent Serratia marcescens infections, Ost... |
OMIM:306400 |
Whim Syndrome |
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Lymphadenitis, Bronchiectasis, Decreased circulating antibody level, Severe periodontitis, Recurr... |
ORPHA:51636 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Atrial Septal Defect, Ostium Secundum Type |
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Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Ataxia-Telangiectasia |
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Ataxia, Gait disturbance, Lymphopenia |
ORPHA:100 |
Shwachman-Diamond Syndrome |
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Osteomyelitis, Hypoamylasemia, Short stature, Impaired neutrophil chemotaxis, Skin rash, Eczema, ... |
ORPHA:811 |
Purine Nucleoside Phosphorylase Deficiency |
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Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Autoimmune hemolyti... |
ORPHA:760 |
Goodpasture Syndrome |
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Glomerular crescent formation, Pulmonary hemorrhage, Weight loss, Cylindruria, Glomerulonephritis... |
OMIM:233450 |
Atrial Septal Defect, Coronary Sinus Type |
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Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Thrombocytopenia-Absent Radius Syndrome |
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Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:274000 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Hermansky-Pudlak Syndrome 2 |
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Chronic oral candidiasis, Periodontitis, Reduced natural killer cell activity, Impaired ADP-induc... |
OMIM:608233 |
Igg4-Related Pachymeningitis |
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Eosinophilia |
ORPHA:449427 |
T-Cell Immunodeficiency With Thymic Aplasia |
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T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
Coccidioidomycosis |
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Granuloma, Abnormality of the spleen, Abscess, Eosinophilia |
ORPHA:228123 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Cushing Disease |
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Suicidal ideation, Decreased eosinophil count, Lymphopenia, Emotional lability, Depression, Leuko... |
ORPHA:96253 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia |
ORPHA:1116 |
Sneddon Syndrome |
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Lymphopenia |
OMIM:182410 |
Infantile Systemic Hyalinosis |
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Failure to thrive, Recurrent bacterial infections, Severe short stature, Growth delay, Telangiect... |
ORPHA:2176 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
Ebola Hemorrhagic Fever |
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Leukopenia, Thrombocytopenia, Lethargy, Lymphopenia |
ORPHA:319218 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidativ... |
OMIM:618935 |
Chediak-Higashi Syndrome |
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Recurrent systemic pyogenic infections, Recurrent bacterial skin infections, Periodontitis, Spont... |
OMIM:214500 |
Primary Sclerosing Cholangitis |
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Recurrent systemic pyogenic infections, Spider hemangioma, Renal insufficiency, Weight loss, Hepa... |
ORPHA:171 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Leukopenia, Anemia, Lymphopenia, Ataxia, Bone marrow hypocellularity, Increased mean corpuscular ... |
OMIM:127550 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Growth delay, Decreased circulating antibody level |
OMIM:248500 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
Sarcoidosis |
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Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia |
ORPHA:797 |
Primary Ciliary Dyskinesia |
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Recurrent mycobacterial infections, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Re... |
ORPHA:244 |
Schimke Immunoosseous Dysplasia |
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Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Wad... |
OMIM:242900 |
Immunodeficiency 55 |
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Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Chromomycosis |
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Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:616100 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Inability to walk, Dysdiadochokinesis, Choreoathetos... |
OMIM:208900 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia |
ORPHA:449563 |
Nephrotic Syndrome, Type 14 |
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Ataxia, Lymphopenia |
OMIM:617575 |
Cystic Fibrosis |
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Recurrent Haemophilus influenzae infections, Bronchiectasis, Recurrent Staphylococcus aureus infe... |
ORPHA:586 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:243150 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Conjunctivitis, Recurrent respiratory infections, Scleritis, Abnormality of the kidney, Abnormali... |
ORPHA:2273 |
Sickle Cell Disease |
|
Recurrent bacterial infections, Renal insufficiency, Hematuria, Hypertension |
OMIM:603903 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Anemia, Dysdiadochokinesis, Gait disturbance, Lymphopenia, Ataxia, Dysmetria, Broad-based gait |
OMIM:616541 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Suicidal ideation, Anxiety, Decreased eosinophil count, Lymphopenia, Emotional lability, Depressi... |
ORPHA:99889 |
Igg4-Related Kidney Disease |
|
Eosinophilia |
ORPHA:449395 |
Lujo Hemorrhagic Fever |
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Leukopenia, Lymphopenia, Leukocytosis, Anxiety, Thrombocytopenia |
ORPHA:319213 |
Primary Intestinal Lymphangiectasia |
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Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Decreased proportion of ... |
ORPHA:90362 |
Cartilage-Hair Hypoplasia |
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Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Ataxia, Thrombocytosis, Leukoc... |
OMIM:615688 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
Viss Syndrome |
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Hypereosinophilia |
OMIM:619472 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia |
ORPHA:1572 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Lymphopenia |
ORPHA:935 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Aggressive behavior, Reticulocytosis, Lymphopenia, Neutrophilia in presence of infect... |
ORPHA:99826 |
Primary Sjögren Syndrome |
|
Leukopenia, Anxiety, Normocytic anemia, Lymphopenia, Depression, Decreased proportion of CD4-posi... |
ORPHA:289390 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Septic arthritis, Osteomyelitis, Recurrent ... |
ORPHA:642 |