B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level... |
ORPHA:169154 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Recurrent infections... |
OMIM:618982 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Immunodeficiency 25 |
|
Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Complete or near-com... |
OMIM:610163 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g... |
OMIM:609529 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Abnormal circulating IgM level, Recurrent vir... |
OMIM:618048 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... |
OMIM:607271 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... |
OMIM:300400 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... |
OMIM:308230 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
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 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... |
OMIM:137100 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
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 |
|
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... |
ORPHA:277 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections |
OMIM:615206 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B ... |
OMIM:212050 |
Immunodeficiency 95 |
|
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... |
OMIM:619773 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decrease... |
ORPHA:331206 |
Immunodeficiency 50 |
|
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... |
OMIM:300988 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections |
OMIM:616911 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infections, Severe r... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased circulating IgG level, Decreased proportion of class-switched memory... |
OMIM:615767 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... |
ORPHA:169160 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... |
ORPHA:275 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... |
OMIM:616005 |
Immunodeficiency 48 |
|
Recurrent candida infections, Failure to thrive, Splenomegaly, Panhypogammaglobulinemia, Absence ... |
OMIM:269840 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... |
ORPHA:443811 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... |
OMIM:617514 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Lymphadenopathy, ... |
OMIM:618261 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... |
OMIM:616022 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG le... |
OMIM:618495 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, L... |
ORPHA:100024 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si... |
OMIM:618969 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplas... |
OMIM:615934 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... |
ORPHA:70593 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Interm... |
OMIM:616740 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... |
OMIM:608184 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Recurrent opportunistic infections, B lymphocytopenia, T lymphocytopenia, Panh... |
OMIM:601457 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level... |
OMIM:617388 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... |
ORPHA:217390 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... |
OMIM:616100 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Failure to thrive, Decreased circulating IgA level,... |
OMIM:617744 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... |
OMIM:619693 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:616395 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Spl... |
OMIM:102700 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... |
OMIM:601495 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... |
OMIM:308240 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Recurrent bacterial i... |
OMIM:243700 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM, Bronchiolitis, Decreased propor... |
OMIM:614878 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Recurrent respiratory infections, B lymphocytopenia, T lymphocytopenia, Decrea... |
OMIM:618108 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level |
OMIM:615592 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, T lymphocytopenia, Recurre... |
OMIM:618986 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell recept... |
OMIM:602450 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... |
OMIM:600802 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Enterov... |
OMIM:300755 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Pancytopenia, Lym... |
OMIM:614700 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneumonia... |
OMIM:147060 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... |
ORPHA:572 |
Immunodeficiency, Common Variable, 10 |
|
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia... |
OMIM:615577 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Decreased circulating antibody level, Recurrent infections, Obesity |
OMIM:605309 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... |
ORPHA:911 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... |
ORPHA:29073 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent viral i... |
OMIM:209920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Simple Cryoglobulinemia |
|
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... |
ORPHA:91139 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b... |
OMIM:619164 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... |
OMIM:275350 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... |
OMIM:301078 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology, Small for gestational age |
OMIM:215250 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Splenomegaly, Eosinophilia, Hypoplasia of the thy... |
OMIM:603554 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level, Recurrent respiratory infections |
DECIPHER:45 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... |
ORPHA:507 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections |
OMIM:242850 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis... |
OMIM:618523 |
Okur-Chung Neurodevelopmental Syndrome |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas... |
OMIM:617062 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Recurrent enteroviral infections, Hepatosplenomegaly, Recurrent absces... |
ORPHA:79124 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Decreased serum complement factor B, Increased circulating IgA level, Leuk... |
ORPHA:2298 |
Primary Biliary Cholangitis |
|
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Increased circulatin... |
ORPHA:186 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy |
ORPHA:37748 |
Postinfectious Vasculitis |
|
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... |
ORPHA:48435 |
Netherton Syndrome |
|
Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Recurrent infections, Incr... |
OMIM:256500 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Lymphadenitis, Decrease... |
ORPHA:331235 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... |
OMIM:615518 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, T lymphocytopenia, Increased circulating IgM ... |
OMIM:242860 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, T... |
OMIM:615607 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:620040 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Recurrent inf... |
OMIM:617591 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Decrease... |
ORPHA:183675 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... |
OMIM:256040 |
Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Recurrent... |
OMIM:615816 |
Immunodeficiency 47 |
|
Failure to thrive, Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM... |
OMIM:300972 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:90362 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, We... |
ORPHA:449400 |
Prolidase Deficiency |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Recurrent infections, Recu... |
OMIM:170100 |
Ataxia-Telangiectasia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia,... |
OMIM:208900 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Increased circulating IgG4 level, Increased circulating IgM leve... |
ORPHA:79078 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Tularemia |
|
Increased circulating antibody level, Leukocytosis, Anemia, Cervical lymphadenopathy, Brain absce... |
ORPHA:3392 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Sepsis, B lymphocytopenia, T ... |
ORPHA:231154 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Increased hepatitis B virus antibody level |
ORPHA:90003 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
C3 Glomerulopathy |
|
Decreased serum complement C3, Decreased serum complement C4, Recurrent infections, Paraproteinemia |
ORPHA:329918 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... |
OMIM:304790 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci... |
OMIM:618213 |
Alg12-Cdg |
|
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Pneumocystosis |
|
Increased circulating antibody level, Weight loss, Abnormal neutrophil count, Chronic oral candid... |
ORPHA:723 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:612301 |
Immunodeficiency 68 |
|
Sepsis, Abscess, Lymphadenitis, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... |
ORPHA:83313 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia, Failure to thrive in ... |
OMIM:613385 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Increased circulating IgE level |
OMIM:270300 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Abdominal obesity, Decreased circulating IgA level, Abnormal proportio... |
ORPHA:125 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
Mevalonic Aciduria |
|
Failure to thrive, Leukocytosis, Fluctuating splenomegaly, Increased circulating IgD level, Normo... |
OMIM:610377 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Weight loss, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
Congenital Analbuminemia |
|
Recurrent lower respiratory tract infections, Increased circulating antibody level, Obesity, Smal... |
ORPHA:86816 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:420741 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
OMIM:619381 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Sepsis, Thrombocytopenia |
ORPHA:319218 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Splenomegaly, Recurrent pneumonia, Recurrent ... |
OMIM:613327 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Splenomegaly, Leukopenia, Sepsis, Patent ductus arteriosus... |
OMIM:617303 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Recurrent infections, Recu... |
ORPHA:634 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt... |
OMIM:620005 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Small for gestational age, Elev... |
OMIM:210900 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Large for gestational age, Decreased circulating IgA level |
ORPHA:457485 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:79330 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Increased circulating IgE level |
ORPHA:3409 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Th... |
OMIM:212750 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Ca... |
ORPHA:37042 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... |
ORPHA:90363 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Increased circulating IgE level, Recurrent infections, Recurrent respiratory infect... |
ORPHA:2314 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst, We... |
ORPHA:400 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... |
ORPHA:449432 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... |
ORPHA:77259 |
Lassa Fever |
|
Sepsis, Increased circulating IgM level |
ORPHA:99824 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Leukemia |
OMIM:208910 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:212065 |
Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Thrombocytosis, Weight loss, Lymphadenopathy |
ORPHA:2905 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Recurrent viral infections |
ORPHA:83600 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Q Fever |
|
Increased circulating antibody level, Splenomegaly, Cryoglobulinemia, Hepatosplenomegaly, Weight ... |
ORPHA:781 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Sepsi... |
ORPHA:505248 |
Monosomy 18Q |
|
Slender build, Failure to thrive, Decreased circulating IgA level, Patent ductus arteriosus |
ORPHA:1600 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... |
ORPHA:284 |
Lead Poisoning |
|
Small for gestational age, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anem... |
ORPHA:330015 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Recur... |
ORPHA:77261 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Aplastic anemia, Recurrent infe... |
OMIM:223370 |
Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Neutropenia |
ORPHA:1163 |
Brucellosis |
|
Failure to thrive, Leukocytosis, Splenomegaly, Small for gestational age, Leukopenia, Increased c... |
ORPHA:1304 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Splenomegaly, Hemolytic anemia, Recurrent lower respiratory... |
OMIM:615846 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Obesity, Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Al Amyloidosis |
|
Increased circulating antibody level, Anemia, Weight loss, Howell-Jolly bodies |
ORPHA:85443 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Failure to thrive, Hemophagocytosis, Complement deficiency,... |
ORPHA:470 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG1 level, Decreased serum complement C3, Complement deficiency, Decreased... |
ORPHA:449395 |
Primary Sjögren Syndrome |
|
Increased circulating antibody level, Lymphopenia, Decreased serum complement C3, Complement defi... |
ORPHA:289390 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Splenomegaly, Mediastinal lymphadenopathy, Generalized lymp... |
OMIM:181000 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... |
ORPHA:297 |
Japanese Encephalitis |
|
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level |
ORPHA:79139 |
Rift Valley Fever |
|
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level |
ORPHA:319251 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Mediastinal ly... |
ORPHA:228123 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Ne... |
ORPHA:99826 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Lymphadenopathy |
ORPHA:449563 |
Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ... |
ORPHA:99827 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Weight loss, Polyclonal elevation of IgM, Splenomegaly |
ORPHA:171 |
Gaucher Disease |
|
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:355 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Weight ... |
ORPHA:91500 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Viss Syndrome |
|
Failure to thrive, Decreased circulating IgA level, Increased circulating IgG level, Patent ductu... |
OMIM:619472 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... |
ORPHA:99829 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |