Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym... |
OMIM:618987 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, R... |
OMIM:614493 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... |
OMIM:613500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:613502 |
Caspase 8 Deficiency |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... |
OMIM:618944 |
Immunodeficiency 11 |
|
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... |
OMIM:615206 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:618969 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:612692 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Increase... |
OMIM:615513 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Vitiligo, Autoimmune thrombocytopenia, Lym... |
OMIM:619846 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Alopecia, Nail dystrophy, Decreased helper T cell proportion, T lymphocyt... |
OMIM:601705 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to unconjugated pneu... |
OMIM:615401 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:619510 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level |
OMIM:619773 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Agammaglobulinemia, Decreased lymphocyte proliferation in resp... |
OMIM:615592 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... |
ORPHA:169079 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia |
OMIM:618806 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob... |
OMIM:613501 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati... |
OMIM:619774 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... |
OMIM:619802 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ... |
ORPHA:331206 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in ha... |
OMIM:607624 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Leukopenia, Lymphopenia, Decreased circulating IgG level, Spleno... |
OMIM:620210 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... |
OMIM:618394 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level |
OMIM:616873 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Premature graying of hair, Bone marrow hypocellularity, Reticular hyperpigmentation, Lymphopenia,... |
OMIM:619767 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Decreased proporti... |
OMIM:618534 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia |
OMIM:617638 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... |
OMIM:618982 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Synophrys, Decreased circulating IgA level, Decreased circulatin... |
OMIM:300861 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... |
OMIM:301081 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 lev... |
OMIM:300310 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decrea... |
OMIM:616100 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
ORPHA:35078 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:605258 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, B lymphocytopenia,... |
ORPHA:277 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased specific anti-polysaccharide antibody level, Mediastinal lymph... |
OMIM:300853 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Increased circulating IgE level, Reduced natural killer cell cou... |
OMIM:243700 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Decreased circulating IgA level, Decreased circ... |
OMIM:615758 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:614878 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:601859 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Immunodeficiency 43 |
|
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... |
OMIM:241600 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2, Abnormal B cell morphology, Decre... |
OMIM:615607 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:615767 |
Immunodeficiency 76 |
|
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... |
OMIM:616005 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs... |
OMIM:600802 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... |
OMIM:618986 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... |
ORPHA:2585 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T cells, Decreased ... |
ORPHA:90362 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... |
OMIM:275350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells |
OMIM:301045 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Decreased circulating antibody... |
OMIM:618116 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... |
OMIM:615518 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... |
OMIM:102700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Increased circulating antibody level, Extramedullary hematopoiesis, Anemia, Thrombocy... |
OMIM:615285 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Increased circulating IgA level, Increased CD4:CD8 ratio,... |
OMIM:618048 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt... |
OMIM:613101 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Eosi... |
ORPHA:911 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnormal neutrophil count, Monocytos... |
ORPHA:2688 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Generaliz... |
OMIM:614700 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Nail dystrophy, Leukopenia, Decreased circulating antibody level |
OMIM:615190 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, D... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:603909 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia |
OMIM:619693 |
Alpha-Heavy Chain Disease |
|
Anemia, Alopecia, Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia |
ORPHA:100025 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased testicular size, Anemia, Decreased circulating IgA lev... |
OMIM:620040 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased response to growth ho... |
OMIM:615577 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... |
OMIM:242700 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Increased circulating IgG level, Lymphadeno... |
OMIM:618495 |
Griscelli Syndrome |
|
Iris hypopigmentation, Leukopenia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Hypo... |
ORPHA:381 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... |
OMIM:300755 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Polycystic ovaries, Lymphopenia, Multiple cafe-au-lait spots, Hypopigm... |
ORPHA:100 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Anemia |
ORPHA:33355 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Increased circulating IgE level, Lymphopenia, Aplasia of the thymus,... |
OMIM:602450 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Alopecia universalis, Decreased specific anti-polysaccharide antibody level, ... |
OMIM:606367 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Hypertricho... |
ORPHA:221139 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence of specific ... |
OMIM:619652 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Decreased circulatin... |
ORPHA:276 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
ORPHA:3261 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Increased circulating antibody level, Anemia, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of humoral immunity, Autoimmune... |
ORPHA:572 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia, Alopecia |
OMIM:616576 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Alopecia Antibody Deficiency |
|
Sparse body hair, Abnormal eyelash morphology, Sparse hair, Decreased circulating antibody level,... |
ORPHA:1006 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... |
OMIM:308230 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating total IgM, Long eyelashes, Decreased circulating IgA le... |
ORPHA:79330 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Increased circulating IgM level, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Wiskott-Aldrich Syndrome |
|
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... |
OMIM:301000 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... |
ORPHA:331235 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Splenomegaly |
OMIM:300635 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Impaired T cell function, Follicular hyperplasia, Decreased circ... |
OMIM:240500 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia, Follicular hyp... |
ORPHA:482 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... |
OMIM:613496 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... |
OMIM:619632 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Lymphadenopathy, ... |
OMIM:617099 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Decreased circulating antibody level, Synophrys |
ORPHA:85317 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased l... |
OMIM:615122 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Fine hair, Lymphopenia, White hair, Agammaglobulinemia |
ORPHA:935 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... |
OMIM:301078 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Anemia, Pure red cell aplasia, Reticular hyperpigmentation, Erythroid hypopla... |
OMIM:618165 |
Immunodeficiency 47 |
|
Decreased circulating total IgM, Leukopenia, Normocytic anemia, Decreased circulating total IgA, ... |
OMIM:300972 |
Bloom Syndrome |
|
Decreased circulating total IgM, Patchy alopecia, Abscess, Acute lymphoblastic leukemia, Decrease... |
ORPHA:125 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Decreased circul... |
OMIM:601495 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Bloom Syndrome |
|
Decreased circulating total IgM, Spotty hypopigmentation, Cryptorchidism, Hypertrichosis, Leukemi... |
OMIM:210900 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... |
OMIM:617237 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgM level, Increased circulating IgG ... |
ORPHA:83313 |
Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Decreased circulating total IgM, Decreas... |
OMIM:602668 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased circulating total IgM, Increased circulating IgE level, Lymphopenia,... |
ORPHA:508533 |
Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
Immunodeficiency 40 |
|
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, T lympho... |
OMIM:616433 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia |
ORPHA:2268 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... |
ORPHA:443811 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Coarse hair, Hydrocele testis, Decreased circulating antibody level, Splenomegaly |
OMIM:605309 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Aplasia of the eccrine sweat glands, Reduced natural killer cell... |
OMIM:300291 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Decreased circulating antibody level, Cryptorchidism, Agammaglobulinemia |
OMIM:616910 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, Decreased circulating IgG2 level, Abnormal hair morphology, Leukemia, A... |
OMIM:208900 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Decreased circulating I... |
OMIM:612301 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Alope... |
ORPHA:3162 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal circulating interferon-gamma... |
ORPHA:79124 |
Roifman Syndrome |
|
Hepatosplenomegaly, Hyperconvex nail, Eosinophilia, Lymphadenopathy, Decreased circulating antibo... |
ORPHA:353298 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Cryptorchidism, Anemia, Severe B lymphocytopenia, Decreased circ... |
OMIM:620005 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Periungual erythema, Nail dystrophy, Leukopenia, Anemia, Lymphop... |
OMIM:615934 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... |
ORPHA:90363 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair, Sideroblastic anemia, B lymphocytopenia, Hypochromic microcytic anemia, Decreased c... |
OMIM:616084 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Netherton Syndrome |
|
Hypereosinophilia, Increased circulating IgE level, Brittle hair, Decreased circulating IgG level... |
OMIM:256500 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased circulating IgA level |
OMIM:617744 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Decreased lymphocyte proliferation in response to anti-CD3, Abnorm... |
OMIM:615468 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Panhypogammaglobulinemia, Pancytopenia |
ORPHA:251009 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Thrombocytopenia,... |
OMIM:226990 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Increased circulating IgE level, Decreased circulating IgA level, Alopecia, Eosinophilia, Cutaneo... |
OMIM:618282 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy, Hypertrichosis, Decreased circulating ant... |
OMIM:619750 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia, Decreased circulating antibod... |
ORPHA:90045 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgM, Anemia, Decreased circulating total IgA, Reduced natural killer ... |
OMIM:619381 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... |
ORPHA:101096 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Impaired platelet aggregation, ... |
OMIM:614072 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Schimke Immunoosseous Dysplasia |
|
Abnormal immunoglobulin level, Anemia, Hypermelanotic macule, Fine hair, Neutropenia, Lymphopenia... |
OMIM:242900 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... |
OMIM:150550 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607143 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia |
OMIM:615966 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... |
OMIM:243150 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Hypopigmentation of hair, Par... |
ORPHA:79477 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... |
OMIM:615952 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Hypopigmented skin patches, Alopecia, Thrombocytop... |
ORPHA:47 |
Netherton Syndrome |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Fine hair, Increased circulating IgE level, Sp... |
ORPHA:634 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the ovary, Abnormal lymph nod... |
ORPHA:543 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:209920 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgA level |
ORPHA:1951 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Pituitary hypothyroidism, Decreased proportio... |
ORPHA:66628 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... |
OMIM:615816 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Woolly Hair |
|
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... |
ORPHA:170 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Vici Syndrome |
|
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Albinism, Lymphopeni... |
OMIM:242840 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Pituitary hypothyroidism, Decreased proportio... |
ORPHA:179494 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Liver abscess, Decreased circulating IgA level, Decreased circul... |
ORPHA:183675 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... |
ORPHA:449400 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Immunodeficiency 59 And Hypoglycemia |
|
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, High... |
OMIM:233600 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, T lymphocytopenia, Decreased proportion of naive T cells, Lymphaden... |
ORPHA:83471 |
Mucopolysaccharidosis-Plus Syndrome |
|
Long eyelashes, Leukopenia, Anemia, Synophrys, Bone marrow hypocellularity, Low posterior hairlin... |
OMIM:617303 |
Good Syndrome |
|
Mediastinal lymphadenopathy, Anemia, Thrombocytopenia, Abnormal leukocyte morphology, Decreased c... |
ORPHA:169105 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Lymphopenia, Eosinophilia |
OMIM:617425 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Lymphadenopathy, Decreased circulatin... |
ORPHA:1572 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Decreased testicular size, Tiger tail banding, Brittle hair, Slow-growing hair, Sparse eyebrow, R... |
OMIM:300953 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Hypereosinophilia, Autoimmune hemolytic anemia, Increased circul... |
OMIM:617388 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Curly hair, Decreased circulating IgA level, Cafe-au-lait spot, Thrombocytopenia |
OMIM:616638 |
Autosomal Agammaglobulinemia |
|
Neutropenia, Agammaglobulinemia |
ORPHA:33110 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Vitiligo, Autoimmune thrombocytopenia, Abnormality of the periungual region, Severe B lymphocytop... |
ORPHA:293978 |
Zika Virus Disease |
|
Retinal pigment epithelial mottling, Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Decreased circulating total IgM, Cryptorchidism, Severe B lymphocytopenia,... |
ORPHA:83617 |
Ring Chromosome 21 Syndrome |
|
Multiple cafe-au-lait spots, Decreased circulating antibody level |
ORPHA:1445 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia, Giant mel... |
OMIM:214500 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Leukemia, Abnormal lymphocyte proliferation, Abnormal lym... |
ORPHA:99867 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... |
ORPHA:420741 |
Syndromic Diarrhea |
|
Hypoplasia of the thymus, Generalized hypopigmentation, Uncombable hair, Trichorrhexis nodosa, Br... |
ORPHA:84064 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve... |
OMIM:618213 |
Whim Syndrome |
|
Vitiligo, Lymphadenitis, Lymphopenia, Parotitis, Abnormality of neutrophil morphology, Decreased ... |
ORPHA:51636 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
Nijmegen Breakage Syndrome |
|
Retinal pigment epithelial mottling, Autoimmune hemolytic anemia, Cafe-au-lait spot, Thrombocytop... |
OMIM:251260 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Decreased circulating antibody level, Anemia, Thrombocytosis |
OMIM:226300 |
Mannosidosis, Alpha B, Lysosomal |
|
Vacuolated lymphocytes, Low anterior hairline, Thick eyebrow, Hypertrichosis, Decreased circulati... |
OMIM:248500 |
Autoimmune Polyendocrinopathy Type 4 |
|
Leukopenia, Aplasia/Hypoplasia of the spleen, Vitiligo, Autoimmune thrombocytopenia, Non-caseatin... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Leukopenia, Aplasia/Hypoplasia of the spleen, Vitiligo, Autoimmune... |
ORPHA:227982 |
Say-Barber-Miller Syndrome |
|
Cryptorchidism, Impaired neutrophil chemotaxis, Highly arched eyebrow, Decreased circulating IgG ... |
ORPHA:3132 |
Cowden Syndrome 1 |
|
Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis, Decreased circulating ant... |
OMIM:158350 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the submandibular glands, Increased circulating IgG4 level, Increased circulating ... |
ORPHA:449432 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Long eyelashes, Hypoplastic nipples, ... |
ORPHA:79329 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells, Panhypogammaglobulinemia, Decreased response to growth hormone stimul... |
OMIM:307200 |
Piebaldism |
|
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Thymic Tumor |
|
Mediastinal lymphadenopathy, Dysgammaglobulinemia |
ORPHA:100100 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
Alg12-Cdg |
|
Cryptorchidism, Partial absence of specific antibody response to Haemophilus influenzae type b (H... |
ORPHA:79324 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... |
ORPHA:91139 |
Trichothiodystrophy 1, Photosensitive |
|
Trichoschisis, Freckling, Tiger tail banding, Trichorrhexis nodosa, Fine hair, Brittle hair, Frag... |
OMIM:601675 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Low posterior hairline, Alopecia, Microcytic anemia, Hyperpigmented nev... |
ORPHA:2959 |
Piebald Trait |
|
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... |
OMIM:172800 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Curly hair, Decreased circulating IgA level, Cafe-au-... |
ORPHA:457485 |
Multiple Myeloma |
|
Increased circulating IgA level, Anemia, Increased circulating IgG level, Lymphadenopathy, Decrea... |
ORPHA:29073 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating antibody level, Long eyelashes, Decreased circulating IgA level |
OMIM:606056 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, L... |
OMIM:615688 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Onychogryposis, Alopecia, Hyperpigmentation of the skin, Hypopigmentation of the skin, De... |
ORPHA:79396 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Vitiligo, Hypermelanotic macule, Autoimmune thrombocytopenia, Lymphopenia, Hypopigmented skin pat... |
OMIM:607944 |
Trichohepatoenteric Syndrome 1 |
|
Generalized hypopigmentation, Trichorrhexis nodosa, Fine hair, Brittle hair, Curly hair, Cafe-au-... |
OMIM:222470 |
Vici Syndrome |
|
Hypopigmentation of the skin, Decreased circulating IgG level, Decreased circulating IgG2 level, ... |
ORPHA:1493 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Thrombocytopenia... |
OMIM:614576 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Long eyelashes, Leukopenia, Thick hair, Anemia, Bone marrow hypocellularity, ... |
ORPHA:505248 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Low anterior hairline, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... |
ORPHA:79433 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal circulating in... |
ORPHA:391487 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Vitiligo, Splenomegaly, Increased circulating antibody level |
ORPHA:2137 |
Primary Sjögren Syndrome |
|
Cryoglobulinemia, Leukopenia, Increased circulating antibody level, Normocytic anemia, Vitiligo, ... |
ORPHA:289390 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased specific antibody response to vaccination, Cutan... |
OMIM:618131 |
Trichothiodystrophy |
|
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Anemia, Ridged nail, Tiger t... |
ORPHA:33364 |
Insulin-Resistance Syndrome Type B |
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Increased circulating IgA level, Leukopenia, Abnormal salivary gland morphology, Polycystic ovari... |
ORPHA:2298 |
Celiac Disease, Susceptibility To, 1 |
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Decreased circulating IgA level, Alopecia, Macrocytic anemia, Thrombocytosis, Iron deficiency anemia |
OMIM:212750 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Decreased circulating IgA level, Pancytopenia, Splenomegaly |
OMIM:613385 |
Tick-Borne Encephalitis |
|
Leukocytosis, Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, I... |
ORPHA:297 |
Distal Deletion 19P |
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Decreased circulating antibody level, Alopecia, Thick eyebrow |
ORPHA:96129 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia |
OMIM:615207 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Hennekam Syndrome |
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Sparse axillary hair, Lymphopenia, Lymphadenopathy, Decreased circulating antibody level, Splenom... |
ORPHA:2136 |
Mohr-Tranebjaerg Syndrome |
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Agammaglobulinemia |
ORPHA:52368 |
Rift Valley Fever |
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Increased circulating IgG level, Thrombocytopenia, Anemia, Increased circulating IgM level |
ORPHA:319251 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Increased circulating IgG level, Abnormality of the ductus choledochus, Granuloma, Increased circ... |
ORPHA:562639 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hirsutism, Decreased circulating IgA level, Splenomegaly |
OMIM:613327 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgA level, Abnormality of the submandibular glands, Increased circulating I... |
ORPHA:79078 |
Lassa Fever |
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Increased circulating IgM level |
ORPHA:99824 |
Brucellosis |
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Lung abscess, Leukocytosis, Liver abscess, Leukopenia, Anemia, Orchitis, Granuloma, Increased cir... |
ORPHA:1304 |
Leukocyte Adhesion Deficiency Type Ii |
|
Long eyelashes, Leukocytosis, Anemia, Low anterior hairline, Microcytic anemia, Broad eyebrow, Ab... |
ORPHA:99843 |
Okur-Chung Neurodevelopmental Syndrome |
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Synophrys, Decreased circulating IgA level, Highly arched eyebrow, Decreased circulating IgG leve... |
OMIM:617062 |
Liver Failure, Infantile, Transient |
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Decreased circulating IgG level |
OMIM:613070 |
Dubowitz Syndrome |
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Cryptorchidism, Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgA level, S... |
OMIM:223370 |
Cartilage-Hair Hypoplasia |
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Anemia, Abnormality of retinal pigmentation, Sparse eyebrow, Sparse hair, Decreased circulating a... |
ORPHA:175 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Igg4-Related Pachymeningitis |
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Increased circulating IgG4 level, Lymphadenitis, Parotitis, Eosinophilia, Complement deficiency |
ORPHA:449427 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating IgA level, Increased circulating interferon-gamma concentration, Increased ... |
OMIM:256040 |
Lysinuric Protein Intolerance |
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Hepatosplenomegaly, Leukopenia, Increased circulating antibody level, Hemophagocytosis, Anemia, A... |
ORPHA:470 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis |
OMIM:212065 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Hyperpigmentation of the skin, Increased circulating IgM level |
ORPHA:186 |
Coccidioidomycosis |
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Abscess, Granuloma, Eosinophilia, Increased circulating IgM level, Increased circulating IgG leve... |
ORPHA:228123 |
Igg4-Related Thyroid Disease |
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Goiter, Increased circulating IgG4 level, Abnormality of the pituitary gland, Nodular goiter, Sia... |
ORPHA:64744 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating antibody le... |
OMIM:618183 |
Thrombocytopenia-Absent Radius Syndrome |
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Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pancreatic cysts, Decre... |
OMIM:274000 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Low anterior hairline, Decreased circulating IgA level, Secondary growt... |
ORPHA:1600 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Orchitis, Increased circulating IgM level, Increased circulating IgG le... |
ORPHA:99827 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... |
ORPHA:99829 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Histiocytosis, Splenomegaly, Neoplasm of the gallbladder, Cholelithiasis, Pol... |
ORPHA:171 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Decreased circulating antibody level, Anemia |
ORPHA:247598 |
Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgG1 level, Abnormality of the anterior p... |
ORPHA:449395 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgG4 level, Orchitis, Abnormality of the anterior pituitary, Increased circ... |
ORPHA:449563 |
Congenital Ptosis |
|
Long eyelashes, Cafe-au-lait spot, Piebaldism |
ORPHA:91411 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating antibody level, Abnormality of retinal pigmentation, Inc... |
ORPHA:91500 |
Viss Syndrome |
|
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Alopecia, In... |
OMIM:619472 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Secretory IgA deficiency, Curly hair, Decreased circulating IgG level, Sparse eyebrow, Broad late... |
ORPHA:500150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cryptorchidism, Asplenia, Broad eyebrow, Hydrocele testis, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Cryptorchidism, Asplenia, Horizontal eyebrow, Broad eyebrow, Hydrocele testis, Decreased circulat... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Cryptorchidism, Asplenia, Broad eyebrow, Highly arched eyebrow, Hydrocele testis, Decreased circu... |
ORPHA:261552 |