Immunodeficiency 24 |
|
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
Monocyte Chemotactic Disorder |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 18 |
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Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... |
OMIM:618944 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... |
OMIM:613495 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... |
OMIM:247800 |
Immunodeficiency 89 And Autoimmunity |
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Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Immunodeficiency, Common Variable, 3 |
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Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... |
OMIM:613502 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... |
OMIM:617006 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia, Eczematoid dermatitis |
OMIM:300988 |
Immunodeficiency 62 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... |
OMIM:618459 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... |
OMIM:607271 |
Immunodeficiency 25 |
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Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... |
OMIM:610163 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... |
OMIM:620430 |
Immunodeficiency 52 |
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Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... |
OMIM:617514 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... |
ORPHA:277 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... |
OMIM:619924 |
Severe Combined Immunodeficiency, X-Linked |
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Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... |
OMIM:300400 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Decreased circulating to... |
OMIM:613500 |
Immunoglobulin A Deficiency 1 |
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Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin... |
OMIM:619707 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Increased circulat... |
OMIM:619220 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
Immunodeficiency 102 |
|
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:301082 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
Candidiasis, Familial, 1 |
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Chronic mucocutaneous candidiasis, Cutaneous anergy |
OMIM:114580 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... |
OMIM:608106 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... |
OMIM:240500 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, In... |
OMIM:619281 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... |
OMIM:612692 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Neutropenia in pre... |
OMIM:607594 |
Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia, Antiphospholipid antibody ... |
ORPHA:90280 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... |
OMIM:619773 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... |
OMIM:603909 |
Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, Perinuclear an... |
OMIM:614420 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... |
OMIM:300310 |
Immunodeficiency 11A |
|
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... |
OMIM:605258 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... |
OMIM:618982 |
Agammaglobulinemia 7, Autosomal Recessive |
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Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... |
OMIM:615214 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... |
ORPHA:411593 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Immunodeficiency, Common Variable, 7 |
|
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... |
OMIM:614699 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia, Decreased ly... |
OMIM:614470 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a... |
OMIM:618394 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... |
OMIM:618969 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Eosinophilia, Colonic eosinophilia... |
OMIM:617638 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
Immunodeficiency 15B |
|
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... |
OMIM:615592 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Skin rash, A... |
OMIM:618048 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency 27A |
|
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Rheumatoid facto... |
OMIM:209950 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... |
OMIM:614493 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Complement Component C1R/C1S Deficiency |
|
Arthritis, Discoid lupus rash, Reduced circulating complement concentration, Nephritis, Autoimmunity |
OMIM:216950 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... |
ORPHA:98813 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
ORPHA:70593 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Decreased circulating antibody level, Ec... |
OMIM:616100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphopenia, Splenomegaly, Systemic lupus er... |
ORPHA:444463 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Splenomegal... |
OMIM:618495 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Recurrent otitis ... |
OMIM:615559 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Decrea... |
ORPHA:572 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgE, Eczematoid dermatitis, T lymphocytopenia, Decreased circulating IgG le... |
OMIM:619510 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... |
OMIM:617780 |
Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... |
OMIM:619374 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... |
OMIM:619846 |
Immunodeficiency 97 With Autoinflammation |
|
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... |
OMIM:619802 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Recurrent otitis media, Increased mean corpuscular volume, Eczema... |
OMIM:619774 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ... |
OMIM:301081 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... |
ORPHA:275 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... |
ORPHA:169160 |
Immunodeficiency 92 |
|
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis... |
OMIM:619652 |
Activated Pi3K-Delta Syndrome |
|
Recurrent otitis media, Arthritis, B lymphocytopenia, Decreased circulating antibody level, Bronc... |
ORPHA:397596 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... |
OMIM:618108 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocytopenia, Decrea... |
OMIM:619705 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... |
OMIM:619752 |
Immunodeficiency 22 |
|
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Anemia, Decreased circulating ... |
OMIM:615758 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Crohn's disease, Optic neuritis, Decreased circulating antibody leve... |
ORPHA:436159 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Decreased circul... |
OMIM:613011 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Recurrent... |
OMIM:616576 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... |
OMIM:308230 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Increased circulating IgE level, Hypereosinophilia, Reduced... |
ORPHA:449400 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody ... |
OMIM:615577 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Chronic oral candidiasis, Abnormal immunoglobulin level, Increased circulating IgG level, Decreas... |
ORPHA:276 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... |
ORPHA:48377 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczematoid dermatitis, Bone marrow hypocellularity, Le... |
OMIM:616871 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM |
OMIM:615139 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Leukopenia, Splenomegaly, Recurrent skin infections, Lymphopenia... |
OMIM:620210 |
Immunodeficiency 10 |
|
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Recurrent otitis media, Increased ... |
OMIM:612783 |
Autoimmune Hepatitis |
|
Anti-smooth muscle antibody positivity, Increased circulating antibody level, Sclerosing cholangi... |
ORPHA:2137 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Pneumon... |
OMIM:614069 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Decreased circulating complement C3 concentration, Anemia, Increased circulating interleukin 6 co... |
OMIM:620514 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... |
OMIM:615010 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... |
OMIM:614700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Increased circulating IgE leve... |
OMIM:618282 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... |
ORPHA:35078 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG level, Increased circul... |
OMIM:243700 |
Pgm3-Cdg |
|
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... |
ORPHA:443811 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammag... |
OMIM:600802 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Antiphospholipid antibody positivity, Increased circulating IgG level, Malar rash, Increa... |
OMIM:615934 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D... |
OMIM:614878 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:300861 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Recurrent aphthous... |
OMIM:301078 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... |
ORPHA:85410 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
Selective Igm Deficiency |
|
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... |
ORPHA:331235 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Thyroiditis, Increased circulating ... |
OMIM:617388 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... |
OMIM:152700 |
Thymoma |
|
Aplastic anemia, Myositis, Decreased circulating antibody level, Abnormal lymphocyte physiology, ... |
ORPHA:99867 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, N... |
ORPHA:540 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... |
OMIM:606367 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... |
OMIM:102700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... |
OMIM:615952 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Anti-smooth muscle antibody positivity, Sclerosing cholangitis, Anti-liver cytosolic antigen type... |
ORPHA:562639 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... |
OMIM:242700 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Thrombocytope... |
ORPHA:47 |
Immunodeficiency 9 |
|
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... |
OMIM:612782 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... |
OMIM:619693 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cutaneous ... |
OMIM:209920 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... |
ORPHA:555905 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Arthritis, Rheumatoid factor positive, Synovitis, Abnormal circulating i... |
ORPHA:85435 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Enterov... |
OMIM:300755 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity |
ORPHA:98827 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri... |
ORPHA:183675 |
Boutonneuse Fever |
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Increased circulating IgG level, Skin rash, Increased circulating IgM level, Leukopenia, Thromboc... |
ORPHA:83313 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... |
ORPHA:79124 |
Immunodeficiency 23 |
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Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... |
OMIM:615816 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Increased circulating IgE level, Leukocytosis, Atopic dermatitis, Hypereosinophilia, Autoimmunity |
ORPHA:2902 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Autoimmune Polyendocrinopathy Type 4 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227990 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Bronchiectasis, Sinusitis, T lymphocytopenia, Increased circulating IgM level, Pneumonia, Decreas... |
OMIM:242860 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... |
OMIM:601495 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc... |
OMIM:243150 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... |
OMIM:301000 |
Sweet Syndrome |
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Increased circulating interleukin 6 concentration, Panniculitis, Acute myeloid leukemia, Chronic ... |
ORPHA:3243 |
Epilepsy-Telangiectasia Syndrome |
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Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
Autoimmune Polyendocrinopathy Type 3 |
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Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... |
ORPHA:227982 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Increased circulating interleu... |
OMIM:620376 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Decreased proportion of naive T cell... |
ORPHA:83471 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... |
ORPHA:37042 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... |
ORPHA:158057 |
Transcobalamin Ii Deficiency |
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Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... |
OMIM:275350 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... |
OMIM:618213 |
Immunodeficiency 58 |
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Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... |
OMIM:618131 |
Aregenerative Anemia |
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Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
Adult Acute Respiratory Distress Syndrome |
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Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating interleukin... |
ORPHA:70578 |
Primary Intestinal Lymphangiectasia |
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Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... |
ORPHA:90362 |
Tempi Syndrome |
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Increased circulating IgG level, Polycythemia, Increased hematocrit |
ORPHA:284227 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
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Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis |
ORPHA:319552 |
Igg4-Related Submandibular Gland Disease |
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Prostatitis, Cholangitis, Increased circulating antibody level, Increased circulating IgG level, ... |
ORPHA:449432 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ... |
ORPHA:221139 |
Igg4-Related Thyroid Disease |
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Sclerosing cholangitis, Thyroiditis, Anti-thyroglobulin antibody positivity, Anti-thyroid peroxid... |
ORPHA:64744 |
Brucellosis |
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Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... |
ORPHA:1304 |
New-Onset Refractory Status Epilepticus |
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Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis |
ORPHA:363558 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, Antiphospholipi... |
ORPHA:391487 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:542323 |
Schimke Immuno-Osseous Dysplasia |
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Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, In... |
OMIM:614576 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
Ataxia-Telangiectasia |
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Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating IgG level, Acute ly... |
OMIM:208900 |
Igg4-Related Kidney Disease |
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Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... |
ORPHA:449395 |
Insulin-Resistance Syndrome Type B |
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Increased circulating IgG level, Increased circulating IgA level, Skin rash, Decreased circulatin... |
ORPHA:2298 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Antinuclear anti... |
ORPHA:85436 |
Immunodeficiency 82 With Systemic Inflammation |
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Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... |
OMIM:619381 |
Immunodeficiency 47 |
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Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati... |
OMIM:300972 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci... |
ORPHA:90363 |
Osteopetrosis, Autosomal Recessive 7 |
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Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreased circulating... |
OMIM:612301 |
Bloom Syndrome |
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Cheilitis, Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proport... |
ORPHA:125 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:620040 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... |
ORPHA:79078 |
Infection-Related Hemolytic Uremic Syndrome |
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Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Acute colitis, Leuk... |
ORPHA:544482 |
Rift Valley Fever |
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Anemia, Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thrombocytop... |
ORPHA:319251 |
Bloom Syndrome |
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Malar rash, Decreased circulating IgG level, Elevated hemoglobin A1c, Bronchiectasis, Decreased c... |
OMIM:210900 |
Hereditary Orotic Aciduria |
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Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Riddle Syndrome |
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Arthritis, Decreased circulating IgG level, Recurrent sinusitis, Recurrent pneumonia, Otitis medi... |
ORPHA:420741 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... |
OMIM:256040 |
Multiple Myeloma |
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Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... |
ORPHA:29073 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Pancytopenia, Arthritis, Bronchiectasis, Inflammation of th... |
OMIM:181000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Splenomegaly, Impaired T cell function |
OMIM:201100 |
Intrahepatic Cholestasis Of Pregnancy |
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Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic conjunctivitis, Impaired T cell function, Allergic rhinitis |
OMIM:176690 |