B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenopathy, Decreased circu... |
OMIM:608106 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Recurrent otitis... |
OMIM:618982 |
Immunodeficiency 25 |
|
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM |
OMIM:300636 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Caspase 8 Deficiency |
|
Recurrent herpes, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG lev... |
OMIM:607271 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... |
OMIM:618987 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... |
OMIM:613501 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... |
OMIM:609529 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract... |
OMIM:618495 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased... |
OMIM:615285 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Agammaglobulinemia, Recurrent p... |
OMIM:613500 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Recurrent respiratory infections, Decreased circulating antibody level, Recurr... |
OMIM:617744 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Failure to thrive... |
ORPHA:277 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:615206 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections |
OMIM:616911 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly |
OMIM:269840 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Increased circulating interleukin 6, Decre... |
OMIM:618944 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Lympha... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... |
ORPHA:169160 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Recurrent infections, Splenom... |
OMIM:614470 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Failure to thrive, Decreased circulating I... |
OMIM:615767 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Chronic oral candidiasis, Onychomycosis, Increased circulating IgE level, Hypere... |
OMIM:212050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Obesity, Recurrent re... |
OMIM:300310 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Failure to thrive, Recurrent infections, Increased circulating antibody level, T... |
OMIM:618048 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... |
OMIM:617514 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Decreased circulating IgA level, Decreased circulating IgG level, R... |
OMIM:619510 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Failure to ... |
OMIM:308230 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, Reduced natural kill... |
OMIM:618261 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to th... |
OMIM:601495 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Failure to thrive, Paratracheal lymp... |
OMIM:615934 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Increas... |
OMIM:617099 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Failure to th... |
OMIM:102700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Decrea... |
OMIM:616100 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Recurrent uppe... |
ORPHA:70593 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... |
OMIM:618394 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Failure to thrive, Failure to thrive secon... |
OMIM:601457 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Failure to thrive, Increased circulating IgG level, Splenomegaly... |
OMIM:617388 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Failure to thrive, Recurrent sinopulmonary infections, Chronic oral candidia... |
OMIM:616740 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circulating antibod... |
OMIM:308240 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Recurrent bacterial infections... |
OMIM:606367 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... |
OMIM:617241 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... |
OMIM:260920 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respiratory infec... |
OMIM:618986 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... |
OMIM:615577 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Lymphadenopathy, Recurrent infections, Splenomegaly, Decreased circulating total IgM, Pan... |
OMIM:614700 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... |
OMIM:618108 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Failure to thrive |
OMIM:615592 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... |
OMIM:600802 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... |
OMIM:209950 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Recurrent infections, Decreased circulating total IgM, Bronchiol... |
OMIM:614878 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... |
OMIM:616576 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia, Obesity |
OMIM:605309 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Increased circulating IgA level, Intermittent thrombocytopenia, I... |
OMIM:313900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Lymphadenopathy, Recurrent upper and lower respiratory tract ... |
ORPHA:911 |
Multiple Myeloma |
|
Increased circulating IgA level, Lymphadenopathy, Weight loss, Decreased circulating antibody lev... |
ORPHA:29073 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... |
OMIM:209920 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Weight loss, Complement defi... |
ORPHA:91139 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level |
ORPHA:411593 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level, Small for gestational age |
OMIM:215250 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... |
OMIM:275350 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, Recurrent bro... |
OMIM:619164 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Lymphadenopathy, Failure to thrive, Hypoplasia... |
OMIM:603554 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Recurrent respiratory infections, Failure to thrive |
DECIPHER:45 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... |
OMIM:613179 |
Leishmaniasis |
|
Leukopenia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, I... |
ORPHA:507 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM |
OMIM:242850 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Selective Igm Deficiency |
|
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
ORPHA:331235 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia, Recurrent respiratory infections, Recurrent otitis... |
OMIM:618523 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Recurrent ear infections, Recurrent viral infections, Absence of ly... |
ORPHA:79124 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Recurrent... |
ORPHA:183675 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Recurrent upper respiratory trac... |
OMIM:602450 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Leukopenia, Increased circulating IgA level, Weight loss, Decreased s... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Recurrent fungal infections, Increased circulating IgM level, On... |
ORPHA:186 |
Postinfectious Vasculitis |
|
Cryoglobulinemia, Increased circulating IgA level, Weight loss, Increased circulating antibody le... |
ORPHA:48435 |
Schnitzler Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level |
ORPHA:37748 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... |
OMIM:150550 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Failure to thrive, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Recurrent infections, Increased circulating I... |
OMIM:256500 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... |
ORPHA:221139 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6, Increased circulating IgA level, Lymphadenopathy, Failure to... |
OMIM:256040 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphadenopathy, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased circula... |
OMIM:617591 |
Immunodeficiency 23 |
|
Neutropenia, Failure to thrive, Abscess, Increased circulating IgG level, Chronic mucocutaneous c... |
OMIM:615816 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... |
OMIM:300972 |
Prolidase Deficiency |
|
Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibody lev... |
OMIM:170100 |
Aicardi-Goutieres Syndrome 7 |
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Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
Igg4-Related Aortitis |
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Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... |
ORPHA:449400 |
Ataxia-Telangiectasia |
|
Recurrent bronchitis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defect... |
OMIM:208900 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
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Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Lymphadenopathy, Weight loss, Increased circulating IgG4 level, ... |
ORPHA:79078 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circ... |
ORPHA:3392 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level, Weight loss |
ORPHA:90003 |
Bloom Syndrome |
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Small for gestational age, Leukemia, Decreased circulating IgA level, Decreased circulating IgG l... |
OMIM:210900 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
C3 Glomerulopathy |
|
Decreased serum complement C4, Paraproteinemia, Recurrent infections, Decreased serum complement C3 |
ORPHA:329918 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure to thrive, Anemia, Increa... |
OMIM:304790 |
Alg12-Cdg |
|
B lymphocytopenia, Sepsis, Recurrent ear infections, Partial absence of specific antibody respons... |
ORPHA:79324 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... |
ORPHA:83313 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small for gestational ... |
ORPHA:125 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody ... |
ORPHA:723 |
Immunodeficiency 68 |
|
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level |
OMIM:178610 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Failure to thrive in infancy, Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancy... |
OMIM:613385 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Failure to thrive, Increased circul... |
OMIM:618213 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Recurrent... |
OMIM:612301 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia, Large for gestational age |
OMIM:616638 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Normocytic hypoplastic anem... |
OMIM:610377 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Recurrent infections, Failure to thrive, Splenomegaly |
OMIM:613327 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Weight loss, Hypereosinophilia, Increased circulating IgE level |
ORPHA:2902 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Weight loss, Recurrent viral in... |
ORPHA:420741 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Congenital Analbuminemia |
|
Obesity, Increased circulating antibody level, Recurrent lower respiratory tract infections, Smal... |
ORPHA:86816 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Mucopolysaccharidosis-Plus Syndrome |
|
Sepsis, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Anemia, Bone marrow hypoc... |
OMIM:617303 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Netherton Syndrome |
|
Increased circulating IgE level, Recurrent respiratory infections, Decreased circulating antibody... |
ORPHA:634 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Large for gestational age |
ORPHA:457485 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Decreased circulating IgA level, Failu... |
OMIM:212750 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Recurrent infections, Decr... |
ORPHA:90363 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Obesity |
ORPHA:3409 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level, Failure to thrive |
OMIM:212065 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neut... |
ORPHA:37042 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia, Recurrent respiratory infections, Recurrent infect... |
ORPHA:2314 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Abscess, Weight loss, Increased circulating antibody level, Eos... |
ORPHA:400 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... |
ORPHA:77259 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy, Increased circulating IgG4 level, Increased circulating IgG level, Complement de... |
ORPHA:449432 |
Lassa Fever |
|
Sepsis, Increased circulating IgM level |
ORPHA:99824 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Decreased circulating IgA level |
OMIM:208910 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG level, R... |
OMIM:223370 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss, Increased circulating antibody level |
ORPHA:2905 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Patent ... |
ORPHA:505248 |
Q Fever |
|
Cryoglobulinemia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Increas... |
ORPHA:781 |
Alveolar Echinococcosis |
|
Weight loss, Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophil... |
ORPHA:284 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Gaucher Disease Type 3 |
|
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Recur... |
ORPHA:77261 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Monosomy 18Q |
|
Decreased circulating IgA level, Slender build, Patent ductus arteriosus, Failure to thrive |
ORPHA:1600 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Obesity, Decreased circulating total IgM, Patent ductus arteriosus |
ORPHA:369837 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, I... |
ORPHA:330015 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Small for gestational age, Lymphadenopath... |
ORPHA:1304 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Leukopenia, Failure to thrive, Decreased circulating antibody lev... |
ORPHA:470 |
Al Amyloidosis |
|
Weight loss, Increased circulating antibody level, Howell-Jolly bodies, Anemia |
ORPHA:85443 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Igg4-Related Kidney Disease |
|
Lymphadenopathy, Lymphadenitis, Decreased serum complement C4, Weight loss, Increased circulating... |
ORPHA:449395 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Cryoglobulinemia, Lymphadenopathy, Decreased serum complement C4, ... |
ORPHA:289390 |
Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Weight loss, Splenomegaly, Increased circulating antibody level, Gen... |
OMIM:181000 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level |
ORPHA:319251 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Coccidioidomycosis |
|
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Abscess, Increased circu... |
ORPHA:228123 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Neutrophilia in presence of infection, Lymphadenopathy, Abnormal lymphocyte morpholog... |
ORPHA:99826 |
Igg4-Related Ophthalmic Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Splenomegaly, Neutrop... |
ORPHA:99827 |
Primary Sclerosing Cholangitis |
|
Weight loss, Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly |
ORPHA:171 |
Gaucher Disease |
|
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia |
ORPHA:355 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Viss Syndrome |
|
Decreased circulating IgA level, Failure to thrive, Increased circulating IgG level, Patent ductu... |
OMIM:619472 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Weight loss, Increased circulating Ig... |
ORPHA:91500 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... |
ORPHA:99829 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |