Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-... |
OMIM:615615 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... |
OMIM:615897 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA ... |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... |
OMIM:618982 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Eczema, Co... |
OMIM:607271 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... |
OMIM:613502 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... |
OMIM:300400 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, Inflammatory abnormality of the skin, B lymphocytopen... |
ORPHA:277 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... |
OMIM:607594 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurrent otitis media, Aut... |
OMIM:619220 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:240500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... |
OMIM:619924 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... |
OMIM:212050 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent otitis media, Absent circu... |
OMIM:613500 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent sinusitis, Absent circulating B cells, Decreased circu... |
OMIM:619707 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Immunodeficiency 50 |
|
Neutropenia, Eczema, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... |
OMIM:617638 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Defective T cell proli... |
OMIM:618534 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, C... |
OMIM:612692 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Decreased proportion of class-switched memo... |
OMIM:615767 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent sinusitis, Recurr... |
OMIM:300853 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... |
OMIM:247800 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Hepatomegaly, Eczematoid dermatitis, P... |
OMIM:269840 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level, Recurrent viral ... |
OMIM:619773 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia, Periodontitis |
OMIM:162700 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... |
ORPHA:859 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... |
OMIM:614493 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Reduced natural killer cell activity, B lymphocytopenia, Neutrop... |
OMIM:619281 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... |
OMIM:312863 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Decreased circulating total IgM, B lymphocyt... |
OMIM:618969 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... |
OMIM:601859 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcer... |
OMIM:618394 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis, Pneum... |
OMIM:209950 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia, Erythema nodosum, Agamm... |
OMIM:615214 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Arthritis, Decreased circulating IgG2 level, Recurrent sinusitis... |
OMIM:300310 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Bronchiectasis, Decreased circulating antibody level... |
OMIM:617514 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... |
OMIM:615592 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Decreased lymphocyte prol... |
ORPHA:169154 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T ... |
OMIM:301082 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... |
OMIM:619632 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Cutaneous abs... |
OMIM:619752 |
Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Hepatomegaly, Extramedullary hematopoie... |
OMIM:615285 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, He... |
OMIM:618495 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... |
OMIM:613101 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... |
ORPHA:169160 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Rec... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... |
OMIM:243700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Decreased circulating antibody level, Erythema nodosum, Pancytopenia, In... |
OMIM:300635 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Increased circulating Ig... |
OMIM:618523 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... |
OMIM:616098 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent otitis media, A... |
OMIM:613501 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... |
OMIM:618282 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... |
OMIM:603909 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Eosinophili... |
OMIM:147060 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Chronic oral candidiasis, T lymphocytopenia, Hemolytic anemia, B lymphoc... |
OMIM:606367 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Pneumonia, Dec... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Eczema |
OMIM:618985 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin... |
OMIM:619802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Recurrent otitis m... |
OMIM:600802 |
Immunodeficiency 92 |
|
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis... |
OMIM:619652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... |
OMIM:616005 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ... |
OMIM:619510 |
Immunodeficiency 66 |
|
Defective T cell proliferation, Pustule, Recurrent skin infections |
OMIM:618847 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... |
OMIM:202700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, Decreased... |
OMIM:102700 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Lymphadenopa... |
ORPHA:69126 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Fulminan... |
OMIM:308240 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocytopenia,... |
OMIM:619705 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Increased circulating IgE level, Pustule |
OMIM:616069 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... |
ORPHA:35078 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Pyoderma, Lymphopenia, Hepatosplenomegaly, Abnormally low T ce... |
OMIM:242700 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Skin rash, Reduced antigen-... |
OMIM:619374 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen... |
OMIM:304790 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Immunodeficiency 46 |
|
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Neutropen... |
OMIM:616740 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:614069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... |
OMIM:601457 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... |
OMIM:618108 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Lym... |
OMIM:618048 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... |
OMIM:614878 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thrombocytopenia, Pneu... |
OMIM:614700 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunoglobulin Kappa Light Chain Deficiency |
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Abnormal immunoglobulin level |
OMIM:614102 |
Igg4-Related Aortitis |
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Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... |
ORPHA:275 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Re... |
OMIM:616576 |
Immunodeficiency 32B |
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Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
Autoimmune Lymphoproliferative Syndrome |
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Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... |
ORPHA:3261 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Pustule, Blepharitis, Increased circulating IgE level, Erythroderma |
OMIM:614328 |
Boutonneuse Fever |
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Leukopenia, Skin rash, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy... |
ORPHA:83313 |
Pgm3-Cdg |
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T lymphocytopenia, Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone ma... |
ORPHA:443811 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis, Autoimmu... |
OMIM:617388 |
Netherton Syndrome |
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Hypereosinophilia, Allergic rhinitis, Erythroderma, Increased circulating IgE level, Decreased ci... |
OMIM:256500 |
Purine Nucleoside Phosphorylase Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Agammaglobulinemia, X-Linked |
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Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Thrombocytopenia 1 |
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Eczema, Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytop... |
OMIM:313900 |
Immunodeficiency 22 |
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Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Per... |
OMIM:615758 |
Roifman Syndrome |
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Decreased T cell activation, Decreased circulating antibody level, Eczema, Recurrent otitis media... |
ORPHA:353298 |
Bare Lymphocyte Syndrome, Type Ii |
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Panhypogammaglobulinemia, Neutropenia, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepa... |
OMIM:209920 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Lymphoproliferative Syndrome 1 |
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Leukopenia, Anemia, Decreased circulating antibody level, Stomatitis, Pancytopenia, Autoimmune th... |
OMIM:613011 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
Immunodeficiency 43 |
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Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... |
OMIM:618213 |
Autoimmune Hepatitis |
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Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthritis, Sclerosing chola... |
ORPHA:2137 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Agammaglobulinemia 9, Autosomal Recessive |
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Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe... |
OMIM:619693 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... |
OMIM:301078 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatitis, Increased circulating an... |
ORPHA:449432 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 23 |
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Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Eczema, Membranoproliferative glomerulonephr... |
OMIM:615816 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypereosinophilia, Increased circulating IgE level, Atopic dermatitis, Leukocytosis |
ORPHA:2902 |
Selective Igm Deficiency |
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Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... |
ORPHA:331235 |
Transcobalamin Ii Deficiency |
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Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... |
OMIM:275350 |
Immunodeficiency, Common Variable, 10 |
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Decreased circulating total IgM, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:615577 |
Primary Intestinal Lymphangiectasia |
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Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
Sneddon Syndrome |
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Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Crusting erythematous dermatitis, Eczema, Myositis, Gastritis, Colitis, Recurrent skin infections... |
ORPHA:37042 |
Aspergillosis |
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Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Sinusitis, Eosinophilia, Keratitis, Infect... |
ORPHA:1163 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Malar rash, Leukopenia, Anemia, Skin rash, Lymphopenia, Myositis, Pustule, Follicular hyperplasia... |
OMIM:615934 |
Wiskott-Aldrich Syndrome |
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Eczema, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:301000 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Immunodeficiency 47 |
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Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... |
OMIM:300972 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis |
ORPHA:90368 |
Hereditary Orotic Aciduria |
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Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Sinusitis, Decreased circul... |
OMIM:242860 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... |
ORPHA:183675 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... |
OMIM:619767 |
Netherton Syndrome |
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Decreased circulating antibody level, Skin rash, Eczema, Erythroderma, Increased circulating IgE ... |
ORPHA:634 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Lymphopenia, ... |
OMIM:617591 |
Good Syndrome |
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Thymoma, Anemia, Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... |
ORPHA:169105 |
Thymic Aplasia |
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Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, T lymphocyto... |
ORPHA:83471 |
Orthostatic Hypotension 2 |
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Hypoglycemia |
OMIM:618182 |
Congenital Disorder Of Glycosylation, Type Iil |
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Cirrhosis, Pancytopenia, Inflammation of the large intestine, Impaired T cell function, Cholestas... |
OMIM:614576 |
Orotic Aciduria |
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Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Tempi Syndrome |
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Increased hematocrit, Increased circulating IgG level, Polycythemia |
ORPHA:284227 |
Agammaglobulinemia 1, Autosomal Recessive |
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Conjunctivitis, Panhypogammaglobulinemia, Neutropenia, Bronchiectasis, Decreased circulating anti... |
OMIM:601495 |
Osteopetrosis, Autosomal Recessive 7 |
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Anemia, Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgA level, He... |
OMIM:612301 |
Autosomal Dominant Hyper-Ige Syndrome |
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Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m... |
ORPHA:2314 |
Immunodeficiency 58 |
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Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis, Decreased circulating... |
OMIM:618131 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Igg4-Related Kidney Disease |
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Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... |
ORPHA:449395 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Splenomegaly, Hepatomegaly |
OMIM:201100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... |
OMIM:300291 |
Lead Poisoning |
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Tubulointerstitial nephritis, Anemia, Abnormal T cell morphology, Skin rash, Imbalanced hemoglobi... |
ORPHA:330015 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Hepatitis, Hypersplenism, Pancytopenia, Hashimoto thyroiditis, Decreased circulating IgA level, H... |
OMIM:613385 |
Immunodeficiency 82 With Systemic Inflammation |
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T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... |
OMIM:619381 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Ulcerative col... |
ORPHA:562639 |
Multiple Myeloma |
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Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... |
ORPHA:29073 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Brucellosis |
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Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... |
ORPHA:1304 |
Simple Cryoglobulinemia |
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Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Arthritis, Monoclonal elevat... |
ORPHA:91139 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating IgA level, Decreased circulating total IgM, Anemia, Decreased circulating I... |
OMIM:620040 |
Mogs-Cdg |
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Decreased circulating total IgM, Decreased circulating antibody level, Hepatosplenomegaly, Decrea... |
ORPHA:79330 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgG4 level, Retroperitoneal fibrosis, Prostatitis, Thyroiditis, Cholangitis... |
ORPHA:449563 |
Congenital Disorder Of Glycosylation, Type Iib |
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Decreased circulating IgA level, Hepatomegaly, Decreased circulating antibody level |
OMIM:606056 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... |
ORPHA:508533 |
Angiostrongyliasis |
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Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... |
ORPHA:74 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Riddle Syndrome |
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Decreased circulating total IgM, Arthritis, Recurrent sinusitis, Chronic sinusitis, Generalized l... |
ORPHA:420741 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Decreased circulating IgG2 level, Ac... |
OMIM:208900 |
Smith-Kingsmore Syndrome |
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Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Sarcoidosis, Susceptibility To, 1 |
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Bronchiectasis, Iridocyclitis, Increased circulating antibody level, Arthritis, Abnormality of T ... |
OMIM:181000 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Lymphopenia, Impaired ... |
ORPHA:1830 |
Rasmussen Subacute Encephalitis |
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Decreased circulating total IgA |
ORPHA:1929 |
Bloom Syndrome |
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Acute myeloid leukemia, Rhinitis, Decreased circulating total IgM, Decreased circulating antibody... |
ORPHA:125 |
Coccidioidomycosis |
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Osteomyelitis, Abnormality of the liver, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Mo... |
ORPHA:228123 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hepatic steatosis, Recurrent pneumonia, Decreased circulating IgA level, Hepatomegaly, Splenomegaly |
OMIM:613327 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Hepatic fibrosis, Anemia, Decreased circulating total IgM, Exocrine pancreatic insufficiency, Lym... |
OMIM:620005 |
Igg4-Related Pachymeningitis |
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Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Nephritis, Sinusitis, Parotitis, E... |
ORPHA:449427 |
Rift Valley Fever |
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Anemia, Hepatitis, Skin rash, Jaundice, Uveitis, Thrombocytopenia, Increased circulating IgM leve... |
ORPHA:319251 |
Celiac Disease, Susceptibility To, 1 |
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Recurrent aphthous stomatitis, Thyroiditis, Stomatitis, Eczema, Decreased circulating IgA level, ... |
OMIM:212750 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Bloom Syndrome |
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Malar rash, Decreased circulating total IgM, Bronchiectasis, Hepatic steatosis, Decreased circula... |
OMIM:210900 |
Vici Syndrome |
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Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Chr... |
OMIM:242840 |
Secondary Intestinal Lymphangiectasia |
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Cirrhosis, Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Co... |
ORPHA:90363 |
Igg4-Related Thyroid Disease |
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Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis, ... |
ORPHA:64744 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas, Decreased circulating total IgM, Eczema, Allergic rhinitis |
OMIM:618162 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Decreased circulating IgA level |
ORPHA:457485 |
Trichinellosis |
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Conjunctivitis, Skin rash, Increased circulating IgE level |
ORPHA:863 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Conjunctivitis, Increased circulating interleukin 6 concentration, Episcleritis, Erythema nodosum... |
OMIM:256040 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatic fibrosis, Pericarditis, Hepatic steatosis, Decreased circulating IgA level, Hepatomegaly,... |
OMIM:212065 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroid... |
ORPHA:79078 |
Simpson-Golabi-Behmel Syndrome |
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Polysplenia, Hepatoblastoma, Hepatomegaly, Pancreatic islet-cell hyperplasia, Increased circulati... |
ORPHA:373 |
Insulin-Resistance Syndrome Type B |
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Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Skin rash... |
ORPHA:2298 |
Crimean-Congo Hemorrhagic Fever |
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Hemoperitoneum, Parotitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Morbilliform rash, Epidi... |
ORPHA:99827 |
Tick-Borne Encephalitis |
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Leukopenia, Myelitis, Abnormality of serum cytokine level, Increased circulating IgM level, Leuko... |
ORPHA:297 |
Dubowitz Syndrome |
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Acute lymphoblastic leukemia, Eczema, Otitis media, Decreased circulating IgA level, Aplastic ane... |
OMIM:223370 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:617062 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Pancreatic hypoplasia, Biliary hyperplasia, Decreased circulating total IgM, B lymphocytopenia, E... |
ORPHA:83617 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Progeroid Short Stature With Pigmented Nevi |
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Impaired T cell function, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
Digeorge Syndrome |
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Anemia, Hypoplasia of the thymus, Recurrent sinusitis, Recurrent otitis media, Hepatic steatosis,... |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
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Splenomegaly, Hypoplasia of the thymus, Arthritis, Impaired T cell function, Abnormality of the t... |
ORPHA:567 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Tubulointerstitial nephritis, Reduced hematocrit, Panuveitis, Scleritis, Increased circulating an... |
ORPHA:91500 |
Viss Syndrome |
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Hypereosinophilia, Eczema, Increased circulating IgE level, Decreased circulating IgA level, Chro... |
OMIM:619472 |