Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Complement Component 8 Deficiency, Type I |
|
Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... |
OMIM:614420 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:601859 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... |
OMIM:618534 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased circ... |
OMIM:619220 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Abnormality of complement system, Systemic lupus erythematosus |
OMIM:613783 |
C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:603909 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... |
ORPHA:411593 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... |
OMIM:618048 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:618459 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Chilblain Lupus |
|
Systemic lupus erythematosus, Increased circulating antibody level, Antinuclear antibody positivi... |
ORPHA:90280 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia |
OMIM:618495 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... |
OMIM:618944 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive |
OMIM:209950 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Autoi... |
OMIM:240500 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Immunodeficiency 18 |
|
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, In... |
OMIM:612783 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Anti-liver cytosolic antigen type 1 antibody positivity, Incr... |
ORPHA:2137 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Autoim... |
ORPHA:277 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:620282 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivity, Anti-sm... |
ORPHA:562639 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Increased circulating IgA level, Antinuclear antibody positivity... |
OMIM:617388 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cytoplasmic antineutrophil antibody positivity, Antiphospholipid antibody positivity, Antinuclear... |
OMIM:615934 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating ... |
OMIM:614470 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... |
OMIM:618394 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Autoimmunity, Autoimmune hemolytic anemia, Increased cir... |
OMIM:615559 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Decreased specific pneumococcal antibody level, Complete or near-com... |
OMIM:613496 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Neutr... |
OMIM:607594 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig... |
OMIM:615577 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:619281 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... |
ORPHA:275 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
C3 Glomerulopathy |
|
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Decreased circu... |
ORPHA:329918 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Increased circulating IgG level, Autoimmunity, Decreased circula... |
OMIM:243700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au... |
OMIM:616100 |
Inflammatory Pseudotumor Of The Liver |
|
Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto... |
ORPHA:64744 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:615816 |
Angiostrongyliasis |
|
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... |
ORPHA:74 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
Immunodeficiency 115 With Autoinflammation |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:620632 |
Immunodeficiency 112 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620449 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Increased circulating IgE level, Autoimmunity, Increased circulating... |
ORPHA:443811 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... |
OMIM:241600 |
Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level |
ORPHA:397596 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased circula... |
OMIM:615758 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Autoimmunity, Autoimmune h... |
OMIM:613011 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level... |
OMIM:616005 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Au... |
ORPHA:436159 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia |
OMIM:619705 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619510 |
Autoinflammatory Disease, Systemic, X-Linked |
|
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 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Systemic lupus erythematosus, Autoimmuni... |
ORPHA:2298 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:169160 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmune antibody pos... |
ORPHA:555905 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449395 |
Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:620603 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A... |
ORPHA:79078 |
Pyoderma Gangrenosum |
|
Rheumatoid arthritis, Increased circulating antibody level |
ORPHA:48104 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Antine... |
OMIM:301078 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Ne... |
OMIM:619802 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
Prolidase Deficiency |
|
Systemic lupus erythematosus, Increased circulating antibody level |
OMIM:170100 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:614700 |
Immunodeficiency 9 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612782 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:607676 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Q Fever |
|
Anticardiolipin IgG antibody positivity, Antimitochondrial antibody positivity, Increased circula... |
ORPHA:781 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... |
ORPHA:297 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... |
OMIM:102700 |
Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr... |
ORPHA:183675 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati... |
OMIM:618986 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Abnormal circ... |
OMIM:620376 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Encephalitis Lethargica |
|
Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive |
ORPHA:1304 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Antinuclear antibody positivity, Increased circulating IgG4 level |
ORPHA:449563 |
Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Reduced circulating complement concentration |
ORPHA:449427 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Liver Failure, Infantile, Transient |
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Decreased circulating IgG level |
OMIM:613070 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
Crimean-Congo Hemorrhagic Fever |
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Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
Postinfectious Vasculitis |
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Abnormality of humoral immunity, Increased circulating antibody level, Cytoplasmic antineutrophil... |
ORPHA:48435 |
Mgat2-Cdg |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:79329 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... |
OMIM:208900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
Bloom Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
Trichothiodystrophy 1, Photosensitive |
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Decreased circulating IgG level |
OMIM:601675 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... |
OMIM:242840 |
Viss Syndrome |
|
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level |
OMIM:619472 |
Bloom Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:125 |
Say-Barber-Miller Syndrome |
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Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... |
ORPHA:3132 |
Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level |
ORPHA:505248 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Primary Sjögren Syndrome |
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Anti-Ro/SS-A antibody positivity, Reduced circulating complement concentration, Decreased circula... |
ORPHA:289390 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:223370 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level |
OMIM:271510 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level |
OMIM:618278 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |