Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... |
OMIM:153600 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... |
OMIM:606843 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... |
OMIM:247630 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... |
OMIM:615897 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... |
OMIM:615513 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia |
OMIM:314000 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... |
OMIM:619707 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... |
OMIM:610163 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... |
OMIM:618534 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l... |
OMIM:618987 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... |
OMIM:613493 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... |
OMIM:613500 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... |
OMIM:617765 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... |
OMIM:619220 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... |
OMIM:601859 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... |
ORPHA:859 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... |
OMIM:613502 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... |
OMIM:612692 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Cutaneous abscess, Decreased pr... |
OMIM:618944 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:169154 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... |
OMIM:617241 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... |
OMIM:619281 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia, Agammaglobulinemia |
OMIM:615214 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... |
OMIM:619632 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Increased circulating antibody level, Neutropenia, Anemia, Thrombocytop... |
OMIM:615285 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:605258 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... |
OMIM:308240 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... |
OMIM:607271 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... |
OMIM:603909 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... |
OMIM:202700 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... |
OMIM:618969 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... |
OMIM:300400 |
Adult Idiopathic Neutropenia |
|
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... |
OMIM:607594 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:611926 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... |
OMIM:209950 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615767 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia |
OMIM:616873 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... |
ORPHA:169079 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... |
OMIM:619510 |
Schnitzler Syndrome |
|
Anemia, Splenomegaly, Leukocytosis, Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... |
ORPHA:70593 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... |
OMIM:619705 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circula... |
OMIM:614470 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased proport... |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... |
OMIM:308230 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... |
OMIM:617099 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Increased circulating IgE level |
OMIM:212050 |
Thrombocytopenia 1 |
|
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... |
OMIM:313900 |
Iga Pemphigus |
|
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Cutaneous... |
ORPHA:555905 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... |
OMIM:617388 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lack of T cell function, B lymphocytopenia, Abnormality of humoral immunity, L... |
ORPHA:277 |
X-Linked Lymphoproliferative Disease |
|
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... |
ORPHA:2442 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, A... |
OMIM:619652 |
Whim Syndrome 1 |
|
Neutropenia, Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... |
ORPHA:331206 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Decreased c... |
OMIM:618261 |
Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Transient neutropenia |
OMIM:607676 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:300861 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased mean platelet volume, Decreased circulating total IgM, Increased circulating IgA level,... |
OMIM:600903 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Angiostrongyliasis |
|
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... |
ORPHA:74 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Eosinophilia, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Boutonneuse Fever |
|
Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level |
ORPHA:83313 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Increased circulating IgG level, Decreased proportion of CD3-pos... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... |
OMIM:619752 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Decreased circulating IgA level, Reduced natural killer cell count, Increased ... |
OMIM:242860 |
Pgm3-Cdg |
|
Reduced antigen-specific T cell proliferation, Eosinophilia, T lymphocytopenia, Increased circula... |
ORPHA:443811 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA level, Ane... |
OMIM:615934 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... |
OMIM:615559 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Decreased proportion of CD3-positive T cells, Hepa... |
ORPHA:169160 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... |
OMIM:240500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune hemolytic anemia, Au... |
OMIM:616100 |
Trichothiodystrophy 3, Photosensitive |
|
Neutropenia, Increased circulating IgA level, Lymphopenia |
OMIM:616395 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Thrombocytopenia |
OMIM:618048 |
Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... |
OMIM:618108 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... |
OMIM:275350 |
Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased circulating total IgM, Eosinophilia, Increased circulat... |
OMIM:301000 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia |
OMIM:619693 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Eosinophilia, Reduced red cell adenosine deaminase level, Autoim... |
OMIM:102700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... |
ORPHA:35078 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:251190 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... |
ORPHA:91139 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Comple... |
ORPHA:449400 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level |
ORPHA:217390 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology |
OMIM:215250 |
Immunodeficiency 23 |
|
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Abscess, Neutrope... |
OMIM:615816 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Increased circulating antibody level |
OMIM:178610 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Partial absence of specific ant... |
OMIM:618986 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
Immunodeficiency 81 |
|
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... |
OMIM:619374 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or near-complete a... |
OMIM:613496 |
Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Increased circulating IgA level, Neutrophilia, Splenomegaly, In... |
OMIM:260920 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... |
ORPHA:29073 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Lichtenstein Syndrome |
|
Neutropenia, Decreased circulating IgA level |
OMIM:246550 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Thrombocytopenia, Splenomegaly |
OMIM:615846 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia, Decreased circulating IgG level |
OMIM:600351 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... |
OMIM:606367 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... |
ORPHA:275 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Increased circulating IgE level |
OMIM:618523 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... |
OMIM:613011 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of CD3-pos... |
ORPHA:90362 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Increased circulating IgM level, Splenomegaly, Neutropen... |
OMIM:617303 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... |
OMIM:614700 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Increased circulating IgE level, Cutaneous abscess |
OMIM:147060 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:615577 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... |
OMIM:300755 |
Insulin-Resistance Syndrome Type B |
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Leukopenia, Increased circulating IgG level, Increased circulating IgA level, Decreased serum com... |
ORPHA:2298 |
Primary Biliary Cholangitis |
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Increased circulating IgA level, Increased circulating IgM level |
ORPHA:186 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Decreased T cell activation, Hypochromic anemia, Increased circulating IgG level, Leukocytosis, T... |
OMIM:618213 |
Immunodeficiency 43 |
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Decreased circulating IgG level |
OMIM:241600 |
Lassa Fever |
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Increased circulating IgM level |
ORPHA:99824 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differentiation, D... |
OMIM:208900 |
Zika Virus Disease |
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Thrombocytopenia, Increased circulating IgM level |
ORPHA:448237 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... |
OMIM:600802 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... |
OMIM:601495 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Decreased circulating antibody level |
OMIM:618042 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG level, Increased circulating IgG4 level, Increased circul... |
ORPHA:449432 |
Pyoderma Gangrenosum |
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Increased circulating antibody level, Myeloid leukemia |
ORPHA:48104 |
Xq28 (MECP2) duplication |
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Decreased circulating IgA level |
DECIPHER:45 |
Inflammatory Pseudotumor Of The Liver |
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Increased hepatitis B virus antibody level |
ORPHA:90003 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgA level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... |
ORPHA:79078 |
Netherton Syndrome |
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Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granuloma, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Tick-Borne Encephalitis |
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Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, Leukocytosis, I... |
ORPHA:297 |
Tularemia |
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Leukocytosis, Cutaneous abscess, Increased circulating antibody level, Anemia, Thrombocytopenia, ... |
ORPHA:3392 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Decreased circulating antibody level, Leukopenia, Bone marrow hypocellularity |
OMIM:615190 |
Rift Valley Fever |
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Anemia, Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level |
ORPHA:319251 |
Autoimmune Hepatitis |
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Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Adult-Onset Nemaline Myopathy |
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Paraproteinemia |
ORPHA:171442 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Decreased circulating IgG level, Leukopenia, Bone marrow hypocellularity, Hepatosplenomegaly, Inc... |
ORPHA:505248 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Subcorneal Pustular Dermatosis |
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Increased circulating antibody level |
ORPHA:48377 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... |
ORPHA:221139 |
Bloom Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... |
OMIM:210900 |
C3 Glomerulopathy |
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Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia |
ORPHA:329918 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... |
OMIM:612301 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Increased circulating antibody level |
ORPHA:69126 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Microcytic anemia, Increased circulating IgG level, Increased circulating IgA level, Splenomegaly... |
OMIM:256040 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypereosinophilia, Leukocytosis, Increased circulating IgE level |
ORPHA:2902 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:619313 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Increased circulating IgE level |
OMIM:614328 |
Japanese Encephalitis |
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Increased circulating antibody level, Neutrophilia, Increased circulating IgM level |
ORPHA:79139 |
Postinfectious Vasculitis |
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Increased circulating antibody level, Increased circulating IgA level, Abnormality of humoral imm... |
ORPHA:48435 |
Ebola Hemorrhagic Fever |
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Increased circulating antibody level, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Brucellosis |
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Increased circulating IgG level, Leukopenia, Leukocytosis, Increased circulating IgM level, Throm... |
ORPHA:1304 |
Immunodeficiency 47 |
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Decreased circulating total IgM, Chronic decreased circulating total IgG, Leukopenia, Normocytic ... |
OMIM:300972 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Neutropenia, Decreased circulating IgG level |
OMIM:608809 |
Rasmussen Subacute Encephalitis |
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Decreased circulating total IgA |
ORPHA:1929 |
Pneumocystosis |
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Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia, Lymphopenia |
OMIM:617591 |
Mogs-Cdg |
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Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... |
ORPHA:79330 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
Waldenström Macroglobulinemia |
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Monoclonal immunoglobulin M proteinemia, Normocytic anemia, Leukemia, Splenomegaly, Abnormality o... |
ORPHA:33226 |
Coccidioidomycosis |
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Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Granuloma, Abnorm... |
ORPHA:228123 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Decreased circulating IgA level, Leukemia |
OMIM:208910 |
Prolidase Deficiency |
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Increased circulating antibody level, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
Alg12-Cdg |
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Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... |
ORPHA:79324 |
Igg4-Related Pachymeningitis |
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Increased circulating IgG4 level, Complement deficiency, Eosinophilia |
ORPHA:449427 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... |
OMIM:616084 |
Selective Igm Deficiency |
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Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased proporti... |
ORPHA:331235 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... |
ORPHA:90363 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Gaucher Disease Type 1 |
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Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level, Anemia, Hyperspleni... |
ORPHA:77259 |
Omenn Syndrome |
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Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... |
OMIM:603554 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Leukopenia, Increased circulating IgG level, Leukocytosis, Increased circulating Ig... |
ORPHA:99827 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly |
OMIM:613385 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Decreased circulating IgA level |
ORPHA:457485 |
Igg4-Related Kidney Disease |
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Decreased serum complement C4, Eosinophilia, Increased circulating IgG1 level, Increased circulat... |
ORPHA:449395 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Leukocytosis, Increased circulating IgM level,... |
ORPHA:99829 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Bloom Syndrome |
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Decreased circulating IgG level, Decreased circulating total IgM, Acute myeloid leukemia, Decreas... |
ORPHA:125 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Decreased circulating IgG level, Decreased circulating total IgM, Decreased specific pneumococcal... |
ORPHA:183675 |
Cystic Echinococcosis |
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Eosinophilia, Increased circulating antibody level, Peritoneal abscess, Splenic cyst, Abscess |
ORPHA:400 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Igg4-Related Thyroid Disease |
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Increased circulating IgG4 level |
ORPHA:64744 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hypereosinop... |
ORPHA:508533 |
Aspergillosis |
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Neutropenia, Eosinophilia, Increased circulating IgE level |
ORPHA:1163 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
Celiac Disease, Susceptibility To, 1 |
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Thrombocytosis, Iron deficiency anemia, Decreased circulating IgA level, Macrocytic anemia |
OMIM:212750 |
Primary Sclerosing Cholangitis |
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Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly |
ORPHA:171 |
Vici Syndrome |
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Decreased T cell activation, Decreased circulating IgG level, Decreased proportion of CD4-positiv... |
OMIM:242840 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eosinophilia, Increased circulating IgE level |
ORPHA:2314 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Decreased circulating IgA level, Splenomegaly |
OMIM:613327 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... |
ORPHA:293978 |
Mevalonic Aciduria |
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Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... |
OMIM:610377 |
Dubowitz Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Aplastic anemia, Acute lymphobl... |
OMIM:223370 |
Riddle Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:420741 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased circulating total IgM, T lymphocytopenia, Decreased circulating total IgG, Decreased pr... |
OMIM:619381 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolyti... |
OMIM:618278 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgG4 level, Increased circulating IgE level, Eosinophilia |
ORPHA:449563 |
Congenital Analbuminemia |
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Increased circulating antibody level |
ORPHA:86816 |
Alveolar Echinococcosis |
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Eosinophilia, Cutaneous abscess, Abnormal spleen morphology, Increased circulating antibody level... |
ORPHA:284 |
Poems Syndrome |
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Increased circulating antibody level, Thrombocytosis, Polycythemia |
ORPHA:2905 |
Encephalitis Lethargica |
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Increased circulating antibody level |
ORPHA:83600 |
Mgat2-Cdg |
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Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody le... |
ORPHA:79329 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia |
ORPHA:77261 |
Q Fever |
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Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Anemia, Granuloma, Cryogl... |
ORPHA:781 |
Scleromyxedema |
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Paraproteinemia |
ORPHA:167635 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
Al Amyloidosis |
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Increased circulating antibody level, Anemia, Howell-Jolly bodies |
ORPHA:85443 |
Primary Sjögren Syndrome |
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Decreased serum complement C4, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positiv... |
ORPHA:289390 |
Lead Poisoning |
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Imbalanced hemoglobin synthesis, Anemia, Increased circulating IgE level, Abnormality of humoral ... |
ORPHA:330015 |
Say-Barber-Miller Syndrome |
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Decreased circulating IgG level, Impaired neutrophil chemotaxis, Transient hypogammaglobulinemia ... |
ORPHA:3132 |
Aapoaiv Amyloidosis |
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Paraproteinemia |
ORPHA:439232 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune throm... |
ORPHA:37042 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Increased circulating IgG level, Normocytic anemia, Increased circulating antibody level, Normoch... |
ORPHA:91500 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia, Decreased circulating IgG level |
OMIM:271510 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, B lymphocytopenia, Severe B lymphocytopenia |
ORPHA:83617 |
Lysinuric Protein Intolerance |
|
Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Decreased circulating antibody level, Thrombocy... |
ORPHA:470 |
Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
Viss Syndrome |
|
Hypereosinophilia, Decreased circulating IgA level, Increased circulating IgE level, Increased ci... |
OMIM:619472 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Pancytopenia, Splenomegaly, Abnormality of T cell physiology |
OMIM:181000 |
Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
Marburg Hemorrhagic Fever |
|
Abnormal lymphocyte morphology, Leukopenia, Increased circulating antibody level, Lymphopenia, Ne... |
ORPHA:99826 |
Gaucher Disease |
|
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia |
ORPHA:355 |
Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Splenomegaly, Increased circulating IgE level |
ORPHA:373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Secretory IgA deficiency |
ORPHA:500150 |