Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
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 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
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 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... |
OMIM:618987 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Autoimmune Lymphoproliferative Syndrome |
|
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, Autoimmunity, Lack of T cell func... |
ORPHA:277 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Autoimmune antibody positivity |
ORPHA:60026 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... |
OMIM:618534 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Lymphopeni... |
ORPHA:444463 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Splenomega... |
ORPHA:231154 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... |
ORPHA:70593 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
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 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... |
OMIM:614470 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... |
OMIM:607594 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... |
OMIM:610163 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Eosinophilopenia |
|
Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 7 |
|
Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... |
OMIM:613493 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmunity, Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG l... |
ORPHA:331206 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... |
OMIM:619375 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:618944 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Immunodeficiency 22 |
|
Autoimmunity, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Decreased circulating anti... |
OMIM:617780 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Autoimmunity, Decreased proportion of class-switched memory B cells, Redu... |
OMIM:615559 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:606843 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia |
OMIM:601495 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level |
ORPHA:217390 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Autoimmunity, Decreased circulating antibody level, Splenomegaly, Lym... |
OMIM:616005 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity |
OMIM:618795 |
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 By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presen... |
ORPHA:572 |
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 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti... |
OMIM:618394 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Immunodeficiency 31C |
|
Autoimmunity, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells |
OMIM:619126 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Lymphocytosis |
ORPHA:79087 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, ... |
OMIM:613011 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgA level, Decreased circulating IgG level, Decreased proport... |
ORPHA:275 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Decreased circulating IgA level, Decreased circulating Ig... |
OMIM:240500 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased lymphocyte prolif... |
OMIM:606367 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... |
OMIM:242700 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Systemic Lupus Erythematosus |
|
Leukopenia, Systemic lupus erythematosus, Thrombocytopenia, Hemolytic anemia, Antinuclear antibod... |
OMIM:152700 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmunity, Systemic lupus erythematosus, Decreased proportion of C... |
ORPHA:760 |
X-Linked Lymphoproliferative Disease |
|
Autoimmunity, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dy... |
ORPHA:2442 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... |
OMIM:613179 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... |
OMIM:308230 |
Igg4-Related Aortitis |
|
Autoimmunity, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivity, I... |
ORPHA:449400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... |
OMIM:614700 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Anemia, Rheumatoid factor positiv... |
ORPHA:90060 |
Gamma-Heavy Chain Disease |
|
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:100026 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Absence of CD8-positive T cells, Hepat... |
ORPHA:911 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Abnormal proportion of CD8-positive T cells, L... |
ORPHA:443811 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Autoimmune Hemolytic Anemia |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Thymic Aplasia |
|
Autoimmunity, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased ... |
ORPHA:83471 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Macrophage Activation Syndrome |
|
Autoimmunity, Neutropenia, Systemic lupus erythematosus, Anemia, Splenomegaly, Juvenile rheumatoi... |
ORPHA:158061 |
Thymoma |
|
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... |
ORPHA:99867 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod... |
OMIM:615952 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Autoimmunity, Hypereosinophilia, Increased circulating IgE level |
ORPHA:2902 |
Selective Igm Deficiency |
|
Autoimmunity, Decreased specific antibody response to vaccination, Neutropenia in presence of ant... |
ORPHA:331235 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... |
ORPHA:90033 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Autoimmunity, Neutropenia, Impaired T cell function, B... |
ORPHA:1830 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology... |
ORPHA:293978 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... |
ORPHA:221139 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Autoimmune hemolytic anemia |
ORPHA:90036 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia |
OMIM:209920 |
Omenn Syndrome |
|
Leukocytosis, Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
Orotic Aciduria |
|
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
Nijmegen Breakage Syndrome |
|
B lymphocytopenia, Dysgammaglobulinemia, Thrombocytopenia, T lymphocytopenia, Autoimmune hemolyti... |
OMIM:251260 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly |
OMIM:201100 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... |
ORPHA:227990 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Anti-glutamic acid decarboxylase antib... |
ORPHA:228426 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulat... |
ORPHA:227982 |
Vici Syndrome |
|
Decreased circulating IgG level, Cutaneous anergy, Decreased proportion of CD4-positive helper T ... |
OMIM:242840 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... |
OMIM:614576 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Hereditary Orotic Aciduria |
|
Impaired T cell function, Anemia, Splenomegaly |
ORPHA:30 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Auto... |
ORPHA:391487 |
Alg12-Cdg |
|
B lymphocytopenia, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgG level, Increased circul... |
ORPHA:449432 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
B lymphocytopenia, Severe B lymphocytopenia, Decreased circulating total IgM |
ORPHA:83617 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Recurrent cutaneous abscess formation, Decre... |
OMIM:618131 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly |
OMIM:181000 |
22Q11.2 Deletion Syndrome |
|
Autoimmunity, Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Thrombocytopenia |
ORPHA:567 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |