Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Secretory Component Deficiency |
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Secretory IgA deficiency |
OMIM:269650 |
Gamma-A-Globulin, Defect In Assembly Of |
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Decreased circulating IgA level |
OMIM:137050 |
Immunoerythromyeloid Hypoplasia |
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Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
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-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Decreased circulating IgG level |
OMIM:235550 |
Agammaglobulinemia 5, Autosomal Dominant |
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Agammaglobulinemia |
OMIM:613506 |
Asthma, Short Stature, And Elevated Iga |
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Increased circulating IgA level |
OMIM:208600 |
Lymphoma, Hodgkin, Classic |
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Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
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Decreased circulating IgG level |
OMIM:242870 |
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 |
Histiocytosis, Familial Lipochrome |
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Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Myeloma, Multiple |
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Paraproteinemia |
OMIM:254500 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Immunodeficiency 11A |
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Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
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 |
Immunodeficiency, Common Variable, 7 |
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Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 50 |
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Decreased circulating antibody level |
OMIM:300988 |
Agammaglobulinemia 10, Autosomal Dominant |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
Neutropenia, Chronic Familial |
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Increased circulating antibody level |
OMIM:162700 |
Reticular Dysgenesis |
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Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Immunoglobulin Kappa Light Chain Deficiency |
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Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
Agammaglobulinemia 4, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level |
OMIM:233650 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level |
OMIM:147050 |
Immunodeficiency 61 |
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Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia |
OMIM:200900 |
Caspase 8 Deficiency |
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Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia |
OMIM:616941 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Decreased circulating antibody level |
ORPHA:2572 |
Transcobalamin Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 15B |
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Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
Agammaglobulinemia 2, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level |
OMIM:247800 |
Agammaglobulinemia 7, Autosomal Recessive |
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Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
Severe Combined Immunodeficiency, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating IgE level, Decreased circulating IgG level, Increased circulating interleuk... |
OMIM:618944 |
Immunodeficiency 62 |
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Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Immunodeficiency 18 |
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Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
Lymphoproliferative Syndrome 3 |
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Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po... |
ORPHA:70593 |
Agammaglobulinemia 6, Autosomal Recessive |
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Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
Panniculitis-Induced Localized Lipodystrophy |
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Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency 70 |
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Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Whim Syndrome 1 |
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Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Neuronal Intestinal Pseudoobstruction |
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Decreased circulating antibody level |
ORPHA:99811 |
Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
Nijmegen Breakage Syndrome-Like Disorder |
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Decreased circulating antibody level |
OMIM:613078 |
Agammaglobulinemia 3, Autosomal Recessive |
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Agammaglobulinemia, Absent isohemagglutinin level |
OMIM:613501 |
Immunodeficiency 25 |
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Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Erythema Elevatum Diutinum |
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Increased circulating antibody level |
ORPHA:90000 |
Immunodeficiency 105 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Immunodeficiency, Common Variable, 2 |
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Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... |
OMIM:240500 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity |
OMIM:607624 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
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 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased circulating antibody level |
OMIM:619846 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level |
OMIM:618752 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... |
OMIM:241600 |
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 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
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 46 |
|
Decreased circulating antibody level |
OMIM:616740 |
Immunodeficiency 52 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... |
OMIM:617514 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... |
OMIM:300853 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:301081 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Bone Marrow Failure Syndrome 4 |
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Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:618116 |
Autoimmune Lymphoproliferative Syndrome |
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Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology |
OMIM:613101 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618108 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... |
OMIM:308240 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:169160 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
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 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Decreased circulating antibody level |
OMIM:616576 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:619693 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:619767 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:603909 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... |
OMIM:600802 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating antibody level, Panhypogammaglobulinemia |
OMIM:601495 |
Mhc Class Ii Deficiency 1 |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:572 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
Sézary Syndrome |
|
Abnormal immunoglobulin level |
ORPHA:3162 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function |
ORPHA:1830 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physiology, Impa... |
OMIM:613179 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Immunodeficiency 58 |
|
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... |
OMIM:618131 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion |
ORPHA:83471 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... |
OMIM:242840 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |