Immunodeficiency 64 |
|
Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low B cells, Anti-... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency 14A, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Hepatomegaly, Rheumatoid factor positive, Thrombocytopenia, Nephrotic syndrome, Smooth muscle ant... |
OMIM:603909 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating ... |
OMIM:619632 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... |
OMIM:610163 |
Immunodeficiency, Common Variable, 6 |
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Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... |
OMIM:613496 |
Immunodeficiency 27A |
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Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... |
OMIM:618048 |
Immunodeficiency 24 |
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Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 72 With Autoinflammation |
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Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Immunodeficiency 95 |
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Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... |
OMIM:619773 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 11 |
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Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... |
OMIM:619924 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Immunodeficiency 36 |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Caspase 8 Deficiency |
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Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymph... |
OMIM:308240 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... |
ORPHA:2137 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... |
ORPHA:277 |
Asthma, Short Stature, And Elevated Iga |
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Asthma, Increased circulating IgA level |
OMIM:208600 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,... |
ORPHA:3261 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... |
ORPHA:2442 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... |
ORPHA:329918 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... |
OMIM:269840 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... |
OMIM:300635 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Decreased serum compleme... |
OMIM:613779 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, Skin rash, Lympho... |
OMIM:615934 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... |
ORPHA:37748 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymph... |
OMIM:609529 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Eczema, Hypoplasia of the thymus, Decreased proportion of CD8-positive ... |
OMIM:617241 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... |
OMIM:613500 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... |
OMIM:300400 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:605258 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hepatomegaly, Splenomegaly, Antinuclear antibody positivity, Inc... |
OMIM:617388 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune th... |
OMIM:304790 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent respiratory i... |
OMIM:613495 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... |
OMIM:616100 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s... |
OMIM:613652 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... |
ORPHA:276 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... |
ORPHA:91139 |
Boutonneuse Fever |
|
Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I... |
ORPHA:83313 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hemophagocytosis, Elevated circulating aspartate aminotransferase concentration, In... |
ORPHA:158061 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... |
ORPHA:562639 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... |
ORPHA:331206 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Chilblain Lupus |
|
Increased circulating antibody level, Asthma, Inflammatory abnormality of the skin, Discoid lupus... |
ORPHA:90280 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... |
OMIM:233650 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells,... |
OMIM:619802 |
Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of t... |
ORPHA:99867 |
Iga Pemphigus |
|
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuri... |
ORPHA:781 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop... |
OMIM:243700 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity, Recurrent respiratory infections |
OMIM:137100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, Panhypogammaglobulinemia, T lympho... |
OMIM:601457 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Skin rash, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... |
ORPHA:567544 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Abnormality of the lymphatic system, A... |
ORPHA:47 |
Cystic Echinococcosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... |
ORPHA:400 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... |
OMIM:212050 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... |
OMIM:600903 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ... |
OMIM:615767 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... |
OMIM:300988 |
Immunodeficiency 23 |
|
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Eosinophilia, Increased ci... |
OMIM:615816 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... |
ORPHA:572 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver ... |
ORPHA:37042 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,... |
OMIM:260920 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Asthma, Complement deficiency, Antinuclear antibody positiv... |
ORPHA:449400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis... |
OMIM:614700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytopenia, Increased circ... |
OMIM:242860 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Hepatic... |
ORPHA:186 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... |
ORPHA:449395 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Recurrent upper res... |
OMIM:602450 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Increased circulating IgM level, Neutrop... |
ORPHA:2688 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... |
ORPHA:70593 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Maculopapular exanthema, Erythroderma,... |
ORPHA:540 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... |
ORPHA:217390 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... |
OMIM:614380 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent ... |
OMIM:619752 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Lymphopenia, De... |
OMIM:619510 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... |
ORPHA:3392 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Smooth muscle antibody positivity, Nodular pattern on pulmonary HRCT, Hepatosplenom... |
ORPHA:99931 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Recurrent upper respiratory tract infections, Autoimm... |
OMIM:608184 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Rhinorrhea, Pneumonia, Osteomyelitis, Chron... |
ORPHA:1163 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Chronic ... |
ORPHA:275 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ... |
OMIM:178500 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomati... |
ORPHA:343 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa... |
OMIM:619644 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosple... |
OMIM:613101 |
Wiskott-Aldrich Syndrome |
|
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:193670 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Multiple Myeloma |
|
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula... |
ORPHA:29073 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Panhypogammaglobu... |
OMIM:615207 |
Brucellosis |
|
Hepatomegaly, Rheumatoid factor positive, Myocarditis, Thrombocytopenia, Epididymitis, Pulmonary ... |
ORPHA:1304 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... |
ORPHA:48435 |
Immunodeficiency, Common Variable, 10 |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:615577 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Neutropenia, Agammaglobulinemia, Recurrent respirat... |
OMIM:613501 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Proteinuria, Acute ... |
OMIM:615008 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... |
OMIM:615139 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveola... |
OMIM:616414 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Recurrent bronchopulmonary infections, Nephritis, Hepat... |
OMIM:617303 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent urinary tract i... |
OMIM:209920 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media |
OMIM:616941 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu... |
OMIM:152700 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Neutropenia, Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Hemophagocy... |
OMIM:301078 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope... |
OMIM:613011 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... |
ORPHA:227990 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu... |
ORPHA:169079 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... |
OMIM:616576 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... |
OMIM:600802 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... |
OMIM:607665 |
Insulin-Resistance Syndrome Type B |
|
Systemic lupus erythematosus, Decreased serum complement factor B, Nephritis, Increased circulati... |
ORPHA:2298 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... |
OMIM:618108 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir... |
ORPHA:90003 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Common Variable Immunodeficiency |
|
Bronchiectasis, Abnormality of the liver, Lymphopenia, Otitis media, Splenomegaly, Autoimmune thr... |
ORPHA:1572 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Zika Virus Disease |
|
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... |
ORPHA:448237 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Enterocolitis, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymp... |
OMIM:243150 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, A... |
ORPHA:227982 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Prolidase Deficiency |
|
Increased circulating antibody level, Asthma, Systemic lupus erythematosus, Hepatomegaly, Splenom... |
OMIM:170100 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... |
OMIM:615952 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... |
ORPHA:507 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... |
OMIM:617744 |
Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... |
ORPHA:289390 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Sp... |
OMIM:613385 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Thrombocytopenia, Inc... |
ORPHA:79078 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eczema, Eosinophilia, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent streptococcus pneumoniae inf... |
ORPHA:83471 |
Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Neutropenia, Increased circulating IgA level, Lymphopenia |
OMIM:616395 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Arthritis, Pleuri... |
ORPHA:829 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:608709 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal platelet function, Abno... |
ORPHA:2585 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Abnormality of the ... |
ORPHA:284227 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Hypereosinophil... |
ORPHA:2902 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal center, Panhypogammaglobulinem... |
ORPHA:79124 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Eczema, Congenital thrombocytopenia, Decreased mean platelet vol... |
OMIM:313900 |
Lassa Fever |
|
Conjunctivitis, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Jaundice |
ORPHA:99824 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... |
ORPHA:449432 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno... |
OMIM:615122 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Lymphopenia, Maculopapular exanthema, Leukopenia, Cough, Ac... |
ORPHA:319218 |
Immunodeficiency 35 |
|
Increased circulating IgE level, Recurrent respiratory infections |
OMIM:611521 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Complement Component 4B Deficiency |
|
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... |
OMIM:614379 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... |
OMIM:613913 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Abnormal lymphocyte physiology, Impaired ... |
ORPHA:1830 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Recurrent urinary tract infections, Panh... |
OMIM:307200 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Hemophagocytosis, Decreased glomerular filtration rate, Hepatic failu... |
ORPHA:470 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Endocarditis, Hematuria, Abno... |
ORPHA:549 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... |
OMIM:618042 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... |
ORPHA:2571 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper and lower respiratory ... |
ORPHA:911 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... |
OMIM:147060 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopol... |
OMIM:215250 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:256020 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Morbilliform... |
ORPHA:228123 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Rift Valley Fever |
|
Skin rash, Increased circulating IgG level, Hematuria, Elevated hepatic transaminase, Hepatitis, ... |
ORPHA:319251 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cells, Colitis, Osteomye... |
OMIM:619381 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegal... |
OMIM:618999 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Sinusitis, Hepatomegaly, Lymphopenia, Skin rash, Splenomega... |
OMIM:617591 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
C3 Glomerulopathy 3 |
|
Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:614809 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Hepatomegaly, Thrombocytopenia, Epididymitis, ... |
OMIM:256040 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... |
ORPHA:139402 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... |
ORPHA:48377 |
Complement Factor I Deficiency |
|
Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser... |
OMIM:610984 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Hepatitis, Abnormal abdomen morphology |
OMIM:219400 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Circulating immune complexes, Hepatomegaly, Splenomegaly, Cryoglobulinemia, Medi... |
ORPHA:91138 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Ly... |
OMIM:618935 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... |
ORPHA:48104 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertension, Hepat... |
ORPHA:391487 |
Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Heavy proteinuria, Airway obstruction, Nephrotic syndrome, Decreased circul... |
ORPHA:505248 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Acute he... |
ORPHA:228426 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Anemia, Recurrent u... |
ORPHA:169105 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia |
OMIM:605309 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... |
ORPHA:90362 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... |
OMIM:616740 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Eosinophilia, Increased... |
ORPHA:449427 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of t... |
OMIM:242700 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Peeling Skin Syndrome 1 |
|
Erythroderma, Asthma, Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstruction, Lymphangiectasi... |
ORPHA:2035 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroder... |
ORPHA:3162 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Decreased circulating IgA level, Recurrent respiratory inf... |
DECIPHER:45 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, ... |
OMIM:615846 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypochromic anemia, P... |
OMIM:618213 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Th... |
OMIM:618116 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating my... |
ORPHA:36234 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... |
OMIM:601495 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec... |
OMIM:612301 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, Tachypnea, Increased c... |
ORPHA:454836 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... |
ORPHA:420741 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Leuk... |
ORPHA:77259 |
Felty Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Lymphadenopathy, Splenomegaly,... |
ORPHA:47612 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Cryoglobulinemia, Respiratory insufficiency, Normocytic anemia, Leuke... |
ORPHA:33226 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the pulmonary vasculature, Pancreatitis, Decreased glomerular filtration rate, Nep... |
ORPHA:93126 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Anti-thyroid perox... |
ORPHA:64744 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Cirrhosis, Acute hepatic failure, Arthritis, Thrombocytopenia... |
ORPHA:905 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney diseas... |
OMIM:301006 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Hemoperitoneum, Neutrophilia, Hepatic failure, Hemothorax, Hematuria, Myocarditis, ... |
ORPHA:99827 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Pulmonary embolism, Abnormal glo... |
ORPHA:567548 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Thymic Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Cough, Autoimmunity, Dysgammaglobulinemia, D... |
ORPHA:100100 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma... |
ORPHA:98848 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... |
ORPHA:1303 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Myelitis, Increased circulating IgG level, Abnormality of serum cytokin... |
ORPHA:297 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tra... |
ORPHA:51636 |
Immunodeficiency 43 |
|
Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:241600 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneumonia, De... |
ORPHA:340 |
Myasthenia Gravis |
|
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... |
ORPHA:589 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid peroxidase antibody pos... |
ORPHA:49041 |
Netherton Syndrome |
|
Asthma, Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Incr... |
OMIM:256500 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepat... |
ORPHA:848 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... |
OMIM:619164 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Eosinophili... |
ORPHA:449563 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulating a... |
OMIM:226300 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Apnea, Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Inflammation of the l... |
OMIM:608809 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Paraproteinemia |
ORPHA:171442 |
Ataxia-Telangiectasia |
|
Decreased circulating IgA level, Sinusitis, Decreased circulating IgG level, Lymphopenia, Hypopla... |
OMIM:208900 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function... |
ORPHA:284 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Immunodeficiency 17 |
|
Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased... |
OMIM:615607 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Leukocytosis, Pancrea... |
ORPHA:99829 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Netherton Syndrome |
|
Asthma, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, H... |
ORPHA:634 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Exocrine pancreatic insufficiency, Elevated circulating alka... |
OMIM:620005 |
Spondyloenchondrodysplasia |
|
Chronic kidney disease, Systemic lupus erythematosus, Skin rash, Juvenile rheumatoid arthritis, A... |
ORPHA:1855 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Brain abscess, Acute inf... |
ORPHA:31202 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Restrictive ve... |
OMIM:614376 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Decreased circulating IgG level, Hepatomegaly, 3-hydroxydicarbo... |
OMIM:613070 |
Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis |
ORPHA:90368 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Decreased circulating IgA level, Decreased circulating IgG level, Pu... |
ORPHA:79330 |
Immunodeficiency 58 |
|
Eczema, Decreased specific antibody response to vaccination, Colitis, Chronic bronchitis, Esophag... |
OMIM:618131 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Hepatic failure, Hepatosp... |
ORPHA:158057 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Bloom Syndrome |
|
Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, Abscess, Uveitis, Pneumonia... |
ORPHA:125 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:79303 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, He... |
ORPHA:39812 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Neonatal Alloimmune Neutropenia |
|
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Jaundic... |
ORPHA:464370 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Japanese Encephalitis |
|
Respiratory distress, Increased circulating antibody level, Pulmonary edema, Irregular respiratio... |
ORPHA:79139 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Autoimmunity, Dyspnea |
ORPHA:228312 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Thrombocytopenia, Reduced natural killer cell activity, P... |
OMIM:616050 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr... |
OMIM:619693 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule |
OMIM:614328 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Systemic lupus erythematosus, Viral hepatitis, Periportal fi... |
ORPHA:101330 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Increased circulating antibody level, Splenom... |
OMIM:181000 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... |
OMIM:618852 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia |
OMIM:617638 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Skin rash, Fluctuating splenomegaly, Leukocytosis, Increased circulatin... |
OMIM:610377 |
Congenital Enterovirus Infection |
|
Respiratory distress, Skin rash, Leukocytosis, Hepatic failure, Leukopenia, Myocarditis, Cholesta... |
ORPHA:292 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Neutropenia |
OMIM:600351 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Complement deficiency, Hematuria, Uveitis, Proteinuria, Inflamm... |
ORPHA:36412 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Eczema, Pancytopenia, Bone marrow hypocellularity, Lupus anticoagulant, Renal arter... |
OMIM:615688 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, R... |
OMIM:208085 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Splenomegaly, Cirrhosis, Respi... |
ORPHA:355 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Complement deficiency, Macroscopic hematuria, Pulmonary embolism, Focal s... |
ORPHA:567546 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... |
ORPHA:2552 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Chronic kidney disease, Osteomyelitis, Anti-topoisomerase I ... |
ORPHA:90291 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... |
OMIM:614576 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Lymphopenia, Cirrhosis, Decreased circulating total IgM, Chylous... |
ORPHA:90363 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Hemoglo... |
OMIM:194380 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent... |
OMIM:613404 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Severe B lymphocytopenia, Autoimmune thrombocytopen... |
ORPHA:293978 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent sinopulmonary infections, Recurrent skin infections, Eosino... |
ORPHA:486 |
Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... |
OMIM:612444 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis |
ORPHA:319552 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis, Recurrent respiratory infections |
ORPHA:363523 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody level, Pulmonary ... |
ORPHA:586 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Elevated circulating alka... |
ORPHA:85443 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Idiopathic Achalasia |
|
Wheezing, Bronchitis, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... |
OMIM:611182 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, De... |
OMIM:616084 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... |
ORPHA:91500 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Cough, Increased circulatin... |
ORPHA:2314 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Recur... |
OMIM:613327 |
Bloom Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... |
OMIM:210900 |
Goodpasture Syndrome |
|
Increased DLCO, Pulmonary hemorrhage, Reticular pattern on pulmonary HRCT, Glomerular crescent fo... |
OMIM:233450 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Hematuria, Abnormal pulmonary i... |
ORPHA:77261 |
Dyskeratosis Congenita, Digenic |
|
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Impaired T cell function,... |
ORPHA:30 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Decreased circulating IgG level, Hepa... |
OMIM:618278 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG level, Hepatomegal... |
OMIM:212065 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Chronic pulmonary obstruction, Abnormal renal medulla morphology, Renal i... |
ORPHA:439232 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity, Hyperventilation, Urinary incontinence |
ORPHA:83600 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Otitis media, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia... |
OMIM:251260 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... |
ORPHA:3226 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Abnormal renal tubule morphology, Cholestasis, Hypochromic microcytic ... |
ORPHA:440713 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Vici Syndrome |
|
Renal tubular acidosis, Decreased circulating IgG level, Decreased circulating IgG2 level, Ureter... |
ORPHA:1493 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level |
OMIM:615190 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Asthma, Decreased circulating IgA level, Hypospadias |
ORPHA:457485 |
Vici Syndrome |
|
Decreased circulating IgG level, Left ventricular hypertrophy, Penile hypospadias, Decreased T ce... |
OMIM:242840 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma,... |
ORPHA:3260 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, Autoimmunit... |
ORPHA:169090 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Chro... |
ORPHA:231226 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Anti-granulocyte-macrophage colony stimulating factor antibody positivity, Intraalveolar phosphol... |
OMIM:610910 |
Zygomycosis |
|
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... |
ORPHA:73263 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... |
OMIM:612387 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Abnormal pleura morphology, Hepatitis, Mucopolysacchariduria, Ascites, Recurrent re... |
ORPHA:584 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Leukemia, Abnormality of the thymus |
OMIM:208910 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Eczema, Macrocytic anemia, Iron deficiency anemia, Stomatitis, T... |
OMIM:212750 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233710 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... |
ORPHA:36238 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Neutropenia, Lymphopenia, Systemic lupus erythematosus, Juvenile rheumato... |
OMIM:607944 |
Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Thrombocytosis, Visceromegaly, Ascites, Pleur... |
ORPHA:2905 |
Lead Poisoning |
|
Renal tubular dysfunction, Asthma, Chronic kidney disease, Skin rash, Anemia, Abnormality of humo... |
ORPHA:330015 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... |
ORPHA:79128 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycystic kidney dysp... |
OMIM:610199 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Agammaglobulinemia |
ORPHA:52368 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass... |
ORPHA:90117 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:233690 |
Hepatoportal Sclerosis |
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Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Anticardiolipin IgG a... |
ORPHA:64743 |
Thrombocythemia 1 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Fusariosis |
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Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Peritonitis, Arthritis, Fasciitis, ... |
ORPHA:228119 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... |
ORPHA:100026 |
Ciliary Dyskinesia, Primary, 14 |
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Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... |
OMIM:613807 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlar... |
ORPHA:251004 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
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Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun... |
ORPHA:85414 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Chronic kidney disease, Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Ren... |
OMIM:137940 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Recurrent otitis media, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Sp... |
OMIM:619525 |
Mccune-Albright Syndrome |
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Renal phosphate wasting, Renal tubular dysfunction, Pancreatitis, Cholestasis, Hepatocellular ade... |
ORPHA:562 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
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Recurrent upper respiratory tract infections, Multicystic kidney dysplasia, Pneumonia, Micropenis |
OMIM:300209 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Complement Factor B Deficiency |
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Peritonitis, Decreased serum complement factor B, Pneumonia |
OMIM:615561 |
Hermansky-Pudlak Syndrome 2 |
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Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Neutrope... |
OMIM:608233 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Hemophagocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thromboc... |
OMIM:603553 |
Granulomatous Disease, Chronic, X-Linked |
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Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... |
OMIM:306400 |
Ciliary Dyskinesia, Primary, 42 |
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Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Hereditary Pulmonary Alveolar Proteinosis |
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Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, I... |
OMIM:269200 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Scedosporiosis |
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Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Abnormal renal m... |
ORPHA:449280 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Psoriasiform dermatitis, Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Autoimmunity, H... |
ORPHA:436252 |
Cocaine Intoxication |
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Respiratory distress, Colitis, Pulmonary edema, Glomerulonephritis, Hematuria, Wheezing, Tachypne... |
ORPHA:90068 |
Lysosomal Acid Lipase Deficiency |
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Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Infection-Related Hemolytic Uremic Syndrome |