Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Gamma-A-Globulin, Defect In Assembly Of |
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Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency, Common Variable, 4 |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 18 |
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Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... |
OMIM:615615 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
Immunodeficiency 35 |
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Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency, Common Variable, 5 |
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Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunoglobulin A Deficiency 1 |
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Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Immunodeficiency, Common Variable, 3 |
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Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Agammaglobulinemia 2, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Immunoglobulin A Deficiency 2 |
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Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
Immunodeficiency, Common Variable, 7 |
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Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Immunodeficiency 61 |
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Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Agammaglobulinemia 10, Autosomal Dominant |
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Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Immunoglobulin Kappa Light Chain Deficiency |
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Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Immunodeficiency 33 |
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Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency 95 |
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Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
Immunodeficiency 11A |
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Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Immunodeficiency 62 |
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Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... |
OMIM:618459 |
Immunodeficiency 50 |
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Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Immunodeficiency 44 |
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Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
Agammaglobulinemia 6, Autosomal Recessive |
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Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
Agammaglobulinemia 7, Autosomal Recessive |
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Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections |
OMIM:615214 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Caspase 8 Deficiency |
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Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
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Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... |
OMIM:300853 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... |
OMIM:618982 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
Immunodeficiency 15B |
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Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... |
OMIM:615592 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
Agammaglobulinemia 3, Autosomal Recessive |
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Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Recurrent oral herpes, Persistent CMV viremia, Increased circulating IgG level, Increased circula... |
OMIM:619220 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Recurrent infections, Reduced natural killer cell activity |
OMIM:614493 |
Lymphoproliferative Syndrome 3 |
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Severe varicella zoster infection, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
Reticular Dysgenesis |
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Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency 25 |
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Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... |
OMIM:610163 |
Immunodeficiency 96 |
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Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Immunodeficiency 37 |
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Recurrent infections, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:607594 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Bare Lymphocyte Syndrome, Type Ii |
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Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... |
ORPHA:169160 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Immunodeficiency 14B, Autosomal Recessive |
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Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Immunodeficiency, Common Variable, 10 |
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Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... |
OMIM:615577 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:243700 |
Vulvovaginal Gingival Syndrome |
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Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Increased circu... |
ORPHA:277 |
Immunodeficiency 11B With Atopic Dermatitis |
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Severe cytomegalovirus infection, Decreased circulating total IgM, Increased circulating IgE leve... |
OMIM:617638 |
Transcobalamin Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... |
OMIM:308230 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased circulating IgA level, Recurrent infections, Increased circulating IgG level, Increased... |
OMIM:618534 |
Immunodeficiency 56 |
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Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurren... |
OMIM:615207 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Adult Acute Respiratory Distress Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Inc... |
OMIM:618495 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... |
ORPHA:572 |
Immunodeficiency 67 |
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Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... |
ORPHA:540 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... |
OMIM:618282 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... |
ORPHA:331206 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... |
OMIM:614878 |
Selective Igm Deficiency |
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Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Agammaglobulinemia, X-Linked |
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Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Meningitis... |
ORPHA:83471 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Recurrent respiratory infections, Partial IgA deficiency, Recurrent viral infections, Recurrent o... |
ORPHA:35078 |
Immunodeficiency 36 With Lymphoproliferation |
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Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... |
OMIM:616005 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Immunodeficiency 60 And Autoimmunity |
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Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... |
OMIM:616100 |
Immunodeficiency 85 And Autoimmunity |
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Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... |
OMIM:619510 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato... |
OMIM:600802 |
Macrophage Activation Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... |
ORPHA:183675 |
Immunodeficiency 92 |
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Recurrent oral herpes, Persistent CMV viremia, BCGosis, Abnormal B cell proliferation, Partial ab... |
OMIM:619652 |
Immunodeficiency 22 |
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Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... |
OMIM:615758 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Sweet Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... |
OMIM:618213 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Wiskott-Aldrich Syndrome |
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Recurrent herpes, Reduced natural killer cell activity, Increased circulating IgA level, Increase... |
OMIM:301000 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Infection-Related Hemolytic Uremic Syndrome |
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Brain abscess, Increased circulating interleukin 6 concentration, Severe infection, Severe viral ... |
ORPHA:544482 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Hereditary Orotic Aciduria |
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Impaired T cell function |
ORPHA:30 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |