Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency 54 |
|
Chromosome breakage, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Lymph... |
OMIM:609981 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chrom... |
OMIM:600546 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Abnormality of chromosome stability, Growth delay, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Fanconi Anemia, Complementation Group D1 |
|
Intrauterine growth retardation, Short stature, T-cell acute lymphoblastic leukemias, Failure to ... |
OMIM:605724 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Intrauterine growth retardation, Postnatal g... |
OMIM:609054 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:616911 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity, Growth delay, Short stature |
OMIM:615272 |
N Syndrome |
|
Leukemia, Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Abnormality of chromosome stability, Short stature, Failure to thrive,... |
ORPHA:100 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation, Growth delay, Short stature |
OMIM:613078 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Decreased prop... |
OMIM:617241 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... |
OMIM:618534 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:605258 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to recurrent infections, Splenome... |
OMIM:608971 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Short stature, Failure to thrive, Anemia |
OMIM:617883 |
Omenn Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... |
OMIM:603554 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Bloom Syndrome |
|
Chromosome breakage, Decreased fertility in females, Type II diabetes mellitus, Abnormality of ch... |
OMIM:210900 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
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 |
|
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... |
ORPHA:277 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Decreased circulating antibody level, Part... |
OMIM:618261 |
Immunodeficiency 76 |
|
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight, Sh... |
OMIM:619060 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia |
OMIM:615592 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... |
OMIM:619220 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
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 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... |
OMIM:617514 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Intrauterine growth retardation, Abnormality of chromosome stability, Anemia... |
OMIM:614083 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Radial-Renal Syndrome |
|
Chromosome breakage, Short stature |
OMIM:179280 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... |
ORPHA:331206 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Aplastic anemia, Postnatal growth retardation |
OMIM:610832 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... |
OMIM:614470 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Icf Syndrome |
|
Abnormality of chromosome stability, Short stature, Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia, Intrauterine growth retardation, Short stature, Bone marrow hypocellularity, Chromos... |
OMIM:609053 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Small for gestational age, Short stature, Leukemia, Anemia, Chromosomal breakage ind... |
OMIM:227650 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia |
OMIM:601495 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Lig4 Syndrome |
|
Leukocytosis, Type II diabetes mellitus, Abnormality of chromosome stability, Acute leukemia, Gro... |
ORPHA:99812 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Abnormality of the thymus, Abnormality of chromosome stability, Chromosome breakage |
OMIM:208910 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Small for gestational age, Short stature, Leukemia, Anemia, Chromosomal breakage ind... |
OMIM:600901 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Growth delay, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, ... |
OMIM:612541 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
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 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Decreased circulating total IgM |
OMIM:300636 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613502 |
Fanconi Anemia, Complementation Group F |
|
Intrauterine growth retardation, Leukopenia, Short stature, Failure to thrive, Decreased response... |
OMIM:603467 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Intrauterine growth retardation, Small for gestational age, Short stature, Leukemia,... |
OMIM:227645 |
Porokeratosis 1, Multiple Types |
|
Abnormality of chromosome stability |
OMIM:175800 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:616100 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Decreased lymphocyte proliferat... |
ORPHA:169160 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level |
ORPHA:217390 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
ORPHA:2643 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia |
OMIM:193670 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
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 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Ataxia-Telangiectasia |
|
Hodgkin lymphoma, Short stature, Leukemia, Hypoplasia of the thymus, Lymphoma, Abnormal spermatog... |
OMIM:208900 |
Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Decreased serum co... |
OMIM:615559 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Abnormality of chromosome stability, Growth delay, Hypogonadism,... |
OMIM:300514 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM |
OMIM:251190 |
Cirrhosis, Familial |
|
Increased circulating antibody level |
OMIM:118900 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... |
OMIM:209950 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:308230 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... |
OMIM:240500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Intrauterine growth retardation, Autoimmune hemolytic anemia |
OMIM:243150 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... |
OMIM:617780 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Short stature, Bone marrow hy... |
OMIM:227646 |
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 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif... |
OMIM:606367 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:605309 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, Lymphop... |
OMIM:242700 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly |
OMIM:616005 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Hypoplasia of the thymus, Intrauterine growth retardation, Cryptorchidism |
OMIM:214110 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... |
ORPHA:275 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Neutropenia |
OMIM:246550 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... |
OMIM:613011 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Failure to thrive, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Intrauterine growth retardation, Small for gestat... |
ORPHA:84064 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Nijmegen Breakage Syndrome |
|
Cachexia, Abnormality of chromosome stability, Rhabdomyosarcoma, Acute leukemia, Short stature, N... |
ORPHA:647 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Intrauterine growth retardation |
OMIM:617022 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphoproliferative disorder, Lymphadenopathy, Lymphadenitis, Failure to thrive, Absence of CD8-p... |
ORPHA:911 |
Meningioma |
|
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... |
ORPHA:2495 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia, Intrauterine growth retardation |
ORPHA:563609 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... |
ORPHA:572 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Boutonneuse Fever |
|
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia |
ORPHA:83313 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Chronic leukemia, Hypoplasia of the thymus, Abnormal platelet morpho... |
ORPHA:906 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
Riddle Syndrome |
|
Weight loss, Generalized lymphadenopathy, Chromosomal breakage induced by ionizing radiation, Sho... |
ORPHA:420741 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Inappropriate antidiuretic hormone secretion, Absence of lymph node... |
ORPHA:79124 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Increased circulating IgG level |
ORPHA:284227 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:617062 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Leukocytosis, Increased circulating IgG level |
ORPHA:206594 |
Fanconi Anemia |
|
Intrauterine growth retardation, Abnormality of chromosome stability, Leukopenia, Azoospermia, Sh... |
ORPHA:84 |
Cartilage-Hair Hypoplasia |
|
Neutropenia, Abnormality of chromosome stability, Failure to thrive, Rhizomelia, Anemia, Dispropo... |
ORPHA:175 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hypereosinophilia... |
OMIM:617388 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Short stature, Insulin-resistant diabetes mellitus, Neoplasm of the pa... |
ORPHA:2959 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Peritoneal abscess, Hypoplasia of the thymus, Abnormality of the... |
ORPHA:436252 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure... |
ORPHA:83471 |
De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Increased circulating IgA level, Anemia, Increased circulating IgG le... |
OMIM:615934 |
Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased... |
OMIM:615816 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology... |
ORPHA:293978 |
Trichothiodystrophy |
|
Neutropenia, Anemia, Defective DNA repair after ultraviolet radiation damage, Panhypogammaglobuli... |
ORPHA:33364 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:602668 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Failure to thrive, Hypoplasia of the thymus, Patent ductus arteriosus, Abnorm... |
ORPHA:861 |
Selective Igm Deficiency |
|
Decreased specific antibody response to vaccination, Neutropenia in presence of anti-neutropil an... |
ORPHA:331235 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Intrauterine growth retardation, Short stature, Failure to thrive, Obesity, H... |
ORPHA:567 |
Immunodeficiency 47 |
|
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... |
OMIM:300972 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Eec Syndrome |
|
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Short stature, A... |
ORPHA:1896 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Intrauterine growth retardation, Short stature, Premature ovarian insufficienc... |
OMIM:251260 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Short stature, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroi... |
OMIM:607944 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomegaly, Decreased... |
OMIM:612301 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Postnatal growth retar... |
ORPHA:288 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:79330 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Monoclonal immunoglobulin M proteinemia, Complement deficiency, Parap... |
ORPHA:91139 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgG level, Complement deficiency, Increas... |
ORPHA:449432 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato... |
ORPHA:217260 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Decreased circulating ... |
ORPHA:125 |
Alg12-Cdg |
|
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG1... |
ORPHA:90363 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Hypersplenism, Decreased circulating IgA level, Splenomegaly |
OMIM:613385 |
Multiple Myeloma |
|
Increased circulating IgA level, Decreased circulating antibody level, Anemia, Increased circulat... |
ORPHA:29073 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Hemangioma, Polycystic ovaries, Exostoses, Splenomegaly, Abnormality of the p... |
ORPHA:2969 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly |
ORPHA:2137 |
Monosomy 22 |
|
Meningioma, Gonadal neoplasm, Hypochromic microcytic anemia, Aplasia of the thymus, Sarcoma, Hepa... |
ORPHA:96123 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Growth delay, Short stature, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgA level, Thrombocytosis, Decreased circulating IgG level |
OMIM:212065 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... |
ORPHA:183675 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia |
OMIM:212750 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Intrauterine growth retardation |
ORPHA:3384 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormality of serum cytokine level, Leukopenia, Increased circulating IgG level, I... |
ORPHA:297 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Cho... |
ORPHA:83617 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Splenomegaly |
OMIM:613327 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Increased circulating IgA level, Decreased serum complement factor B, Increased circu... |
ORPHA:2298 |
Dubowitz Syndrome |
|
Decreased circulating IgA level, Acute lymphoblastic leukemia, Aplastic anemia, Decreased circula... |
OMIM:223370 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Increased circulating IgM level, Increased circulating IgG level |
ORPHA:562639 |
Rift Valley Fever |
|
Thrombocytopenia, Increased circulating IgM level, Anemia, Increased circulating IgG level |
ORPHA:319251 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Increased circulating IgG level, ... |
ORPHA:1304 |
Igg4-Related Kidney Disease |
|
Decreased serum complement C4, Increased circulating IgG4 level, Increased circulating IgG level,... |
ORPHA:449395 |
Proteus Syndrome |
|
Ovarian neoplasm, Macroorchidism, Neoplasm of the lung, Meningioma, Neoplasm of the central nervo... |
ORPHA:744 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating IgA level, Decreased circulating total IgM |
ORPHA:369837 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abscess, Increased circulating IgG level, Increased circulating IgM le... |
ORPHA:228123 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6, Increased circulating IgA level, Increased circulating inter... |
OMIM:256040 |
Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
Crimean-Congo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Increased circulating IgG level, Splenomegaly, Neutrophilia, Increased ... |
ORPHA:99827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... |
ORPHA:91500 |
Viss Syndrome |
|
Decreased circulating IgA level, Increased circulating IgE level, Hypereosinophilia, Increased ci... |
OMIM:619472 |