Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Immunodeficiency 18 |
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Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 42 |
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Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chronic o... |
OMIM:616622 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 11A |
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Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Caspase 8 Deficiency |
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Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Immunodeficiency, Common Variable, 2 |
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Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphadenopa... |
OMIM:240500 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Proteus-Like Syndrome |
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Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Wiskott-Aldrich Syndrome 2 |
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Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... |
OMIM:614493 |
Immunodeficiency, Common Variable, 1 |
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Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... |
OMIM:607594 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... |
ORPHA:83471 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absence of lymph node germinal center, Recurrent opportunistic infections, Increased circulating ... |
ORPHA:277 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... |
OMIM:602450 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... |
OMIM:603554 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Bare Lymphocyte Syndrome, Type Ii |
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Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... |
OMIM:102700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency 9 |
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Hypoplasia of the thymus, BCGitis, Recurrent infections |
OMIM:612782 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Recurrent b... |
OMIM:208900 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Syndromic Diarrhea |
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Increased mean platelet volume, Hypothyroidism, Patent ductus arteriosus, Splenomegaly, Recurrent... |
ORPHA:84064 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... |
ORPHA:906 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Cryptorchidism, Hypoplasia of the thymus |
OMIM:214110 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Hypoplasia of the thymus, Recurrent abscess formation, Type I diabet... |
ORPHA:436252 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Digeorge Syndrome |
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Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Recurrent pneumonia, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Treacher-Collins Syndrome |
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Cryptorchidism, Patent ductus arteriosus, Abnormality of the adrenal glands, Hypoplasia of the th... |
ORPHA:861 |
Monosomy 22 |
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Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Impaired T cell function, Abnormality of the tonsils, Crypto... |
ORPHA:567 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus |
OMIM:617666 |
Eec Syndrome |
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Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism... |
OMIM:620186 |
Truncus Arteriosus |
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Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Hypoplasia of the thymus, Recurrent respiratory infections, Increased serum testo... |
OMIM:264090 |
Prostate Cancer, Hereditary, 1 |
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OMIM:601518 |