Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... |
OMIM:617241 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral infections |
OMIM:114580 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... |
OMIM:267500 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Candidiasis, Familial, 2 |
|
Increased circulating IgE level, Hypereosinophilia |
OMIM:212050 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections |
OMIM:615214 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... |
OMIM:614470 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... |
OMIM:618534 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... |
OMIM:102700 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level, Eosinophilia |
OMIM:147060 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli... |
OMIM:606367 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... |
OMIM:300853 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... |
OMIM:619281 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level, Reduced natur... |
OMIM:308240 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618261 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... |
OMIM:615559 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... |
OMIM:619220 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... |
OMIM:600903 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... |
OMIM:617514 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... |
OMIM:304790 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... |
OMIM:308230 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... |
ORPHA:169160 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... |
OMIM:615816 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... |
OMIM:618986 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... |
OMIM:313900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... |
OMIM:209950 |
Immunodeficiency 66 |
|
Defective T cell proliferation |
OMIM:618847 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells |
OMIM:619126 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Abnormal immunoglobulin l... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
ORPHA:331206 |
Schnitzler Syndrome |
|
Anemia, Leukocytosis, Increased circulating IgM level, Splenomegaly |
ORPHA:37748 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... |
ORPHA:2585 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Increased circulating antibody level |
OMIM:618048 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... |
ORPHA:572 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia |
OMIM:601495 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level |
OMIM:178610 |
Leishmaniasis |
|
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Increased circulating antibody ... |
ORPHA:507 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE le... |
ORPHA:330015 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... |
OMIM:617780 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Increased circulating antibody level, Splenomegaly |
OMIM:615846 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... |
ORPHA:449432 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... |
OMIM:617099 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... |
ORPHA:3392 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... |
ORPHA:37042 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:616100 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... |
OMIM:613011 |
Boutonneuse Fever |
|
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia |
ORPHA:83313 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Anemia, Abnormal serum interferon-gamma level, Hepatosplenomegaly, Panhypogammaglobulinemia, Decr... |
ORPHA:79124 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Increased circulating antibody level, Lymphopenia, Leukopenia |
ORPHA:319218 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... |
OMIM:617388 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Decreased proportion of CD4-positive h... |
ORPHA:543 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Ataxia-Telangiectasia |
|
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... |
OMIM:208900 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... |
OMIM:615934 |
Igg4-Related Kidney Disease |
|
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... |
ORPHA:449395 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Chroni... |
ORPHA:83471 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphadenitis, Decreased p... |
ORPHA:331235 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... |
OMIM:613179 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Pneumocystosis |
|
Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
C3 Glomerulopathy |
|
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3 |
ORPHA:329918 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Prolidase Deficiency |
|
Thrombocytopenia, Increased circulating antibody level, Anemia, Splenomegaly |
OMIM:170100 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Increased circulating antibody level, Pancytopen... |
ORPHA:77259 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Hyper-Igd Syndrome |
|
Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatosplenomegaly, In... |
OMIM:260920 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4-positive helper T ... |
OMIM:242840 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... |
OMIM:614576 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... |
ORPHA:91139 |
Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Abscess, Increased circulating antibody level, Eosinophilia |
ORPHA:400 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Polysplenia, Splenomegaly |
ORPHA:373 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... |
OMIM:610377 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Increased circulating... |
OMIM:617303 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Anemia, Bone ma... |
ORPHA:1830 |
Orotic Aciduria |
|
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Reticulocytopeni... |
ORPHA:508542 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti... |
OMIM:251260 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Decreased circulating antibody level, Abnormal lymphocyte morphology... |
ORPHA:293978 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... |
ORPHA:29073 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Alveolar Echinococcosis |
|
Anemia, Abnormal spleen morphology, Increased circulating antibody level, Eosinophilia, Cutaneous... |
ORPHA:284 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Increased circulating interleukin 6, Abnormality of chemokine secret... |
ORPHA:544482 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... |
ORPHA:542323 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Increased circulating antibody level |
ORPHA:2905 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Gaucher Disease Type 3 |
|
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia |
ORPHA:77261 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Cryoglobulinemia, Decreased serum complement C4, Normochromic anem... |
ORPHA:289390 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Recurrent cutaneous abscess formation, Decre... |
OMIM:618131 |
Q Fever |
|
Cryoglobulinemia, Anemia, Splenomegaly, Increased circulating antibody level, Hepatosplenomegaly,... |
ORPHA:781 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Viss Syndrome |
|
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... |
OMIM:619472 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Decreased circulating IgG level, Anemia, Bone marrow hypocellularity, Hepatosplenomeg... |
ORPHA:505248 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... |
ORPHA:2298 |
Al Amyloidosis |
|
Increased circulating antibody level, Howell-Jolly bodies, Anemia |
ORPHA:85443 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
Rift Valley Fever |
|
Anemia, Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:319251 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Increased circulating IgG level, ... |
ORPHA:1304 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Japanese Encephalitis |
|
Neutrophilia, Increased circulating antibody level, Increased circulating IgM level |
ORPHA:79139 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Neutrophilia, Increased circulating IgM level,... |
ORPHA:99829 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Alg12-Cdg |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to tetanus vac... |
ORPHA:79324 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6, Increased circulating IgA level, Increased circulating inter... |
OMIM:256040 |
Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
Lysinuric Protein Intolerance |
|
Leukopenia, Decreased circulating antibody level, Anemia, Complement deficiency, Increased circul... |
ORPHA:470 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Increased circ... |
ORPHA:99826 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly |
OMIM:181000 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abscess, Increased circulating IgG level, Increased circulating IgM le... |
ORPHA:228123 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Thrombocytopenia, Increased circulating IgM level, Increased cir... |
ORPHA:79078 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Increased circulating IgM level |
ORPHA:186 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ... |
ORPHA:99827 |
Gaucher Disease |
|
Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocytopenia |
ORPHA:355 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia, Decreased circulating total IgM |
ORPHA:83617 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Postinfectious Vasculitis |
|
Increased circulating IgA level, Increased circulating antibody level, Abnormality of humoral imm... |
ORPHA:48435 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... |
ORPHA:91500 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response |
ORPHA:845 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly |
ORPHA:171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response |
ORPHA:521426 |
22Q11.2 Deletion Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Impaired T cell function, Splenomegaly |
ORPHA:567 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response |
ORPHA:438213 |