Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Immunodeficiency 62 |
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Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Systemic Lupus Erythematosus 16 |
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Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... |
OMIM:614420 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Caspase 8 Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Autoimmune Disease |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Agammaglobulinemia 10, Autosomal Dominant |
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Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Immunodeficiency, Common Variable, 7 |
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Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase antibody positivity,... |
ORPHA:277 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Cernunnos-Xlf Deficiency |
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Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Immunodeficiency 102 |
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Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Transcobalamin Deficiency |
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Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymph... |
OMIM:240500 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy, Increased... |
OMIM:618495 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immune Deficiency, Familial Variable |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc... |
OMIM:618048 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Immunodeficiency 36 With Lymphoproliferation |
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Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased ... |
OMIM:616005 |
Insulin Autoimmune Syndrome |
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Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating... |
OMIM:618394 |
Immunodeficiency 27A |
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Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Incr... |
OMIM:209950 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuc... |
OMIM:619375 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
C1Q Deficiency 1 |
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Autoimmunity, Decreased circulating complement factor I concentration, Systemic lupus erythematosus |
OMIM:613652 |
Gamma-A-Globulin, Defect In Assembly Of |
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Decreased circulating IgA level |
OMIM:137050 |
Macrophage Activation Syndrome |
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Hepatomegaly, Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, ... |
ORPHA:158061 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Activated Pi3K-Delta Syndrome |
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Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody l... |
ORPHA:397596 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopeni... |
OMIM:613011 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
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Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin lev... |
ORPHA:98813 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
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Decreased circulating IgA level |
OMIM:235500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
Eosinophilopenia |
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Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
Autoimmune Lymphoproliferative Syndrome |
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Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
Immunodeficiency 92 |
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Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Igg4-Related Aortitis |
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Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... |
ORPHA:449400 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Juve... |
ORPHA:275 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
Autoimmune Hepatitis |
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Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, An... |
ORPHA:2137 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Chronic hepatitis due to cryptosporidium... |
ORPHA:572 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Autoinflammatory Disease, Systemic, X-Linked |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Immunodeficiency 22 |
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Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:615758 |
Immunodeficiency 11B With Atopic Dermatitis |
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Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Unclassified Myelodysplastic Syndrome |
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Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level... |
OMIM:615934 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... |
OMIM:617388 |
Immunodeficiency 7 |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad... |
OMIM:615387 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal... |
ORPHA:100026 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... |
ORPHA:85410 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level |
OMIM:215250 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Primary Intestinal Lymphangiectasia |
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Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... |
ORPHA:90362 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni... |
ORPHA:227990 |
Transcobalamin Ii Deficiency |
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Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni... |
ORPHA:227982 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... |
OMIM:300972 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... |
OMIM:300755 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pancreatitis,... |
ORPHA:544482 |