Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Gamma-A-Globulin, Defect In Assembly Of |
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Decreased circulating IgA level |
OMIM:137050 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, Common Variable, 7 |
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Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Immunodeficiency 61 |
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Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Agammaglobulinemia 10, Autosomal Dominant |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM |
OMIM:606445 |
Immunoglobulin A Deficiency 1 |
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Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Agammaglobulinemia 4, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
Myeloma, Multiple |
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Paraproteinemia |
OMIM:254500 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM |
OMIM:610798 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
Immunodeficiency 11A |
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Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
Agammaglobulinemia 2, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
Immunodeficiency 95 |
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Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Transcobalamin Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Increased circulating IgE level |
OMIM:221700 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... |
OMIM:618944 |
Immunodeficiency 62 |
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Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
Immunodeficiency 33 |
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Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
Agammaglobulinemia 6, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
Immunodeficiency 18 |
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Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 25 |
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Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Immunodeficiency 70 |
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Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
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 105 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Decreased circulating total IgM |
OMIM:615139 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... |
OMIM:240500 |
Immunodeficiency 11B With Atopic Dermatitis |
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Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
Immunodeficiency 14B, Autosomal Recessive |
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Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:619281 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 96 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Immunodeficiency 64 With Lymphoproliferation |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... |
OMIM:618534 |
Immunodeficiency 112 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620449 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 52 |
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Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... |
OMIM:617514 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Immunodeficiency 102 |
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Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:301081 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia |
OMIM:619705 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619510 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619752 |
Immunodeficiency 10 |
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Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... |
OMIM:612783 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
Immunodeficiency, Common Variable, 10 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Decreased circulating IgA level |
OMIM:215250 |
Immunodeficiency 92 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
Immunodeficiency 22 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:615758 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
Immunodeficiency 9 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612782 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level |
OMIM:616005 |
Tempi Syndrome |
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Increased circulating IgG level |
ORPHA:284227 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
Transcobalamin Ii Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |