Complement Component 8 Deficiency, Type I |
|
Meningitis, Systemic lupus erythematosus |
OMIM:613790 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
C1Q Deficiency 3 |
|
Antinuclear antibody positivity, Discoid lupus rash, Recurrent bacterial meningitis |
OMIM:620322 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... |
OMIM:618459 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level |
OMIM:300988 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Recurrent infections, Autoimmunity, Systemic lupus eryt... |
OMIM:613652 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... |
OMIM:614420 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus |
OMIM:613791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... |
OMIM:615513 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... |
OMIM:618394 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Eczema, Reduced natural killer cell activity |
OMIM:614493 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... |
OMIM:619774 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease... |
OMIM:619510 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, C... |
ORPHA:98813 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... |
OMIM:614069 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Panhypogammaglob... |
OMIM:269840 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity |
OMIM:608898 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... |
OMIM:619752 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased circulating antibod... |
OMIM:613101 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level |
OMIM:193670 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... |
OMIM:243700 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total IgM, Leukopenia... |
OMIM:620210 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,... |
OMIM:615559 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat... |
OMIM:615767 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pure red cell a... |
ORPHA:436159 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki... |
OMIM:619374 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... |
OMIM:616740 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... |
OMIM:601457 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... |
OMIM:618108 |
L-2-Hydroxyglutaric Aciduria |
|
Infectious encephalitis |
ORPHA:79314 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency 20 |
|
Recurrent otitis media, Recurrent sinusitis, Reduced natural killer cell activity |
OMIM:615707 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Decreased circulating total IgM, Panniculitis, Decreased... |
OMIM:615758 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... |
OMIM:615577 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... |
ORPHA:277 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... |
OMIM:619693 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Pfapa Syndrome |
|
Recurrent pharyngitis, Infectious encephalitis, Arthritis |
ORPHA:42642 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio |
OMIM:618495 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural killer cell act... |
OMIM:616050 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... |
OMIM:308230 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ... |
ORPHA:33355 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil... |
ORPHA:464370 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complet... |
OMIM:613496 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus... |
ORPHA:444463 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased circulating IgM ... |
OMIM:616005 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis |
ORPHA:99825 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Q Fever |
|
Pericarditis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Maculopapular exa... |
ORPHA:781 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level |
OMIM:301045 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... |
ORPHA:90362 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Conjunctivitis, Meningitis, Infectious encephaliti... |
ORPHA:448237 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia |
ORPHA:37748 |
Lyme Disease |
|
Arthritis, Meningitis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Autoimmune antibody positivity, Infectious encephalitis |
ORPHA:3386 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo... |
ORPHA:275 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... |
ORPHA:1163 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... |
OMIM:618282 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... |
OMIM:615122 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... |
OMIM:620040 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis, Autoimmunity |
ORPHA:363558 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... |
ORPHA:221139 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... |
ORPHA:36234 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:613011 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... |
OMIM:615207 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... |
OMIM:612301 |
Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... |
OMIM:617388 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Typhoid |
|
Skin rash, Infectious encephalitis |
ORPHA:99745 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... |
ORPHA:163525 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marr... |
OMIM:301078 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... |
ORPHA:33110 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:607143 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... |
ORPHA:353298 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Antiphospholipid antibody positivi... |
ORPHA:391487 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity, Increased ci... |
OMIM:603553 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Meningitis, Infectious encephalitis |
ORPHA:447788 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au... |
ORPHA:229717 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Avian Influenza |
|
Pneumonia, Hepatitis, Conjunctivitis, Meningitis, Infectious encephalitis, Myelitis |
ORPHA:454836 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Decreased circulating total IgM, Arthritis, Otitis media, Recurre... |
ORPHA:420741 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Panhypogammaglobulinemia |
ORPHA:251009 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis |
ORPHA:1194 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... |
OMIM:617099 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Infectious encephaliti... |
ORPHA:549 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Abscess, Pneumon... |
ORPHA:125 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Meningitis, Infectious encephalitis |
ORPHA:292 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis |
ORPHA:2116 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... |
OMIM:619381 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D... |
OMIM:210900 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia, Increased circulatin... |
ORPHA:3392 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Listeriosis |
|
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocardit... |
ORPHA:533 |
Netherton Syndrome |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE level, Hypereosin... |
OMIM:256500 |
Microsporidiosis |
|
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... |
ORPHA:2552 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Meningitis, Seve... |
ORPHA:31204 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis |
ORPHA:33475 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... |
ORPHA:443811 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Decreased circulating total IgM, Eczema |
OMIM:618162 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:100 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Disseminated viral... |
ORPHA:83597 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Bronchiectasis, Decreased ci... |
ORPHA:169105 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Recurrent pneumonia, Decreased circulating antibody level |
OMIM:619750 |
Neurocutaneous Melanocytosis |
|
Infectious encephalitis |
ORPHA:2481 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... |
ORPHA:90363 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... |
OMIM:615607 |
Pemphigus Erythematosus |
|
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... |
OMIM:615934 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa... |
ORPHA:329918 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... |
ORPHA:99867 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Leukop... |
ORPHA:381 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia |
ORPHA:354 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Erythroderma, Abnormal immunoglobulin level |
ORPHA:3162 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Autoimmunity, Recurrent infections |
ORPHA:703 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... |
ORPHA:73263 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Meningitis, Infectious encephalitis |
OMIM:267700 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... |
OMIM:620005 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... |
OMIM:613179 |
Poliomyelitis |
|
Meningitis, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... |
ORPHA:91139 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos... |
OMIM:615387 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Rheumatoid factor positive, Pneumonia, Glomerulone... |
ORPHA:1304 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Anemia, Arthritis, Panniculitis, Increased circulat... |
OMIM:617591 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... |
ORPHA:1572 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Splenomegaly, Lymphopenia, Decreased circulating antibody level |
OMIM:605309 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Recurrent pneumonia, Impaired ADP-induced platelet aggregat... |
OMIM:608233 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:169090 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody level |
OMIM:226300 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections |
ORPHA:704 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... |
ORPHA:51636 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Prolidase Deficiency |
|
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia, Increased ci... |
OMIM:170100 |
Rift Valley Fever |
|
Skin rash, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Erythroderma, Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Japanese Encephalitis |
|
Meningitis, Infectious encephalitis |
ORPHA:79139 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Men... |
ORPHA:37042 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell prolifer... |
OMIM:616433 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Incontinentia Pigmenti |
|
Keratitis, Infectious encephalitis, Uveitis, Skin rash |
ORPHA:464 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level |
ORPHA:1493 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis |
ORPHA:847 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... |
OMIM:208900 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Infectious encephalitis |
ORPHA:68 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... |
ORPHA:324625 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... |
OMIM:242900 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... |
ORPHA:83617 |
Alexander Disease |
|
Infectious encephalitis |
ORPHA:58 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:615688 |
Distal Deletion 19P |
|
Decreased circulating antibody level |
ORPHA:96129 |
Tick-Borne Encephalitis |
|
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... |
ORPHA:297 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon... |
ORPHA:293978 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Recurrent infections, Inflammati... |
OMIM:617718 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circulating IgM level, Leukopenia,... |
OMIM:617303 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... |
ORPHA:411696 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, St... |
OMIM:212750 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Pneumonia, Anti-granulocyte-macrophage colony st... |
OMIM:610910 |
Cysticercosis |
|
Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Autoimmunity, Uveitis, Inflammatory abnormality of the eye, Arthritis, R... |
ORPHA:36412 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Follicular Lymphoma |
|
Meningitis |
ORPHA:545 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level |
OMIM:613385 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas... |
ORPHA:2298 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Increased circulat... |
ORPHA:77259 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... |
ORPHA:3132 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level |
OMIM:248500 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Cowden Syndrome 1 |
|
Lymphopenia, Thyroiditis, Decreased circulating antibody level |
OMIM:158350 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Cinca Syndrome |
|
Skin rash, Arthritis, Meningitis, Uveitis |
OMIM:607115 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Primary Biliary Cholangitis |
|
Increased circulating IgM level, Gastrointestinal inflammation, Hepatitis, Increased circulating ... |
ORPHA:186 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... |
ORPHA:1830 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Membranous nephropathy, Increased circulating antibody level, Splenic cyst... |
ORPHA:400 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Abscess, Eosinophilia, Pneumonia, Erythema nodosum, Abnor... |
ORPHA:228123 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis... |
OMIM:251260 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Arthritis, Meningitis |
ORPHA:829 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... |
ORPHA:31202 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Decreased circulating IgA level |
OMIM:613327 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Myocarditis, Arthritis, Keratoconjunc... |
ORPHA:809 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Decreased circulating antibody level |
OMIM:618183 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449395 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Chronic mucocutaneous ... |
OMIM:242840 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Infec... |
ORPHA:293987 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Erythroderma |
OMIM:601675 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... |
ORPHA:3243 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Arachnoiditis |
|
Meningitis |
ORPHA:137817 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Conjunctivitis... |
ORPHA:505248 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Chronic Granulomatous Disease |
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Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... |
ORPHA:379 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Alveolar Echinococcosis |
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Liver abscess, Eosinophilia, Cholangitis, Abnormal spleen morphology, Increased circulating antib... |
ORPHA:284 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Keratitis... |
ORPHA:99843 |
Lysinuric Protein Intolerance |
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Glomerulonephritis, Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, A... |
ORPHA:470 |
Monosomy 18Q |
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Decreased circulating IgA level |
ORPHA:1600 |
Syndromic Diarrhea |
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Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, Hypoplasia of the thymus, Throm... |
ORPHA:84064 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Iridocyclitis, Bronchiectasis, Uvei... |
OMIM:181000 |
Dubowitz Syndrome |
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Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Increased circulating antibody level |
OMIM:606002 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Trichohepatoenteric Syndrome 1 |
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Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level |
OMIM:222470 |
Trichothiodystrophy |
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Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... |
ORPHA:99827 |
Cinca Syndrome |
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Inflammatory abnormality of the eye, Retrobulbar optic neuritis, Meningitis, Uveitis |
ORPHA:1451 |
Hennekam Syndrome |
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Splenomegaly, Lymphopenia, Erysipelas, Decreased circulating antibody level |
ORPHA:2136 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:77261 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
Gorham-Stout Disease |
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Osteomyelitis, Meningitis |
ORPHA:73 |
Cryptococcosis |
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Osteomyelitis, Pneumonia, Autoimmunity, Meningitis, Peritonitis, Systemic lupus erythematosus, Pr... |
ORPHA:1546 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Hepatosplenomegaly, Polyclonal ... |
ORPHA:171 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatosplenomegaly, Anemia, Decreased circulating antibody level |
ORPHA:247598 |
Cartilage-Hair Hypoplasia |
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Neutropenia, Anemia, Decreased circulating antibody level |
ORPHA:175 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, L... |
ORPHA:99829 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function |
OMIM:176690 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulat... |
OMIM:274000 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pancreatitis,... |
ORPHA:544482 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Granulomatosis With Polyangiitis |
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Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Increased inf... |
ORPHA:900 |
Adenohypophysitis |
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Antinuclear antibody positivity, Chronic lymphocytic meningitis, Hashimoto thyroiditis |
ORPHA:95512 |
Wiskott-Aldrich Syndrome |
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Recurrent respiratory infections, Sinusitis, Autoimmunity, Eczema, Keratitis, Arthritis, Inflamma... |
ORPHA:906 |
Parenteral Nutrition-Associated Cholestasis |
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Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Familial Mediterranean Fever |
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Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis |
OMIM:249100 |
Acute Transverse Myelitis |
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Invasive parasitic infection, Autoimmunity, Severe viral infection, Systemic lupus erythematosus,... |
ORPHA:139417 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... |
ORPHA:342 |
Kawasaki Disease |
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Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Arthritis, Con... |
ORPHA:2331 |
Giant Cell Arteritis |
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Recurrent pharyngitis, Pericarditis, Meningitis, Arthritis |
ORPHA:397 |
Sepsis In Premature Infants |
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Severe infection, Disseminated viral infection, Meningitis, Enterocolitis |
ORPHA:90051 |
Viss Syndrome |
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Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Digeorge Syndrome |
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Parathyroid agenesis, Impaired T cell function, Thrombocytopenia, Splenomegaly, Parathyroid hypop... |
OMIM:188400 |
Sponastrime Dysplasia |
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Recurrent pneumonia, Neutropenia, Decreased circulating antibody level |
ORPHA:93357 |
Pituitary Dermoid And Epidermoid Cysts |
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Meningitis |
ORPHA:91351 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Abnormality of the tonsils, Impaired T cell function, Cryptorchidism, Splenom... |
ORPHA:567 |
Trichinellosis |
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Skin rash, Meningitis, Conjunctivitis |
ORPHA:863 |
Kikuchi-Fujimoto Disease |
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Skin rash, Antinuclear antibody positivity, Myocarditis, Pustule, Malar rash, Meningitis |
ORPHA:50918 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... |
ORPHA:744 |
Plague |
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Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, Acute infec... |
ORPHA:707 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |
Hydranencephaly |
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Meningitis |
ORPHA:2177 |
Leptospirosis |
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Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Meningitis |
ORPHA:509 |
Sacral Defect With Anterior Meningocele |
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Meningitis |
OMIM:600145 |
Classic Mycosis Fungoides |
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Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Recurrent otitis media, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Asplenia, Recurrent otitis media, Enterocolitis, Decreased circulating antibody level |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Recurrent otitis media, Decreased circulating antibody level |
ORPHA:261552 |