Phenotypes associated with the disease autoimmune lymphoproliferative syndrome type 1 (OMIM:601859):
- Iron deficiency anemia (HP:0001891). Evidence: IEA. (OMIM:601859)
- Antineutrophil antibody positivity (HP:0003453): The presence of autoantibodies in the serum that react against neutrophils. Evidence: IEA. (OMIM:601859)
- Platelet antibody positive (HP:0003454): The presence in the serum of autoantibodies directed against thrombocytes. Evidence: IEA. (OMIM:601859)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: IEA. (OMIM:601859)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: IEA. (OMIM:601859)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: IEA. (OMIM:601859)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:601859)
- Autoimmune neutropenia (HP:0001904): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. Evidence: IEA. (OMIM:601859)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:601859)
- Decreased T cell apoptosis (HP:0002731): Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. Evidence: IEA. (OMIM:601859)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: IEA. (OMIM:601859)
- Increased HLA-DR+ CD4+ T cell proportion (HP:0002853): Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: IEA. (OMIM:601859)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: IEA. (OMIM:601859)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: IEA. (OMIM:601859)
- Increased double-negative T cell number (HP:0002851): Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. (OMIM:601859)
- Reduced delayed hypersensitivity (HP:0002972): Decreased ability to react to a delayed hypersensitivity skin test. Evidence: IEA. (OMIM:601859)
- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: IEA. (OMIM:601859)
- Anti-smooth muscle antibody positivity (HP:0003262): The presence in serum of antibodies against smooth muscle. Evidence: IEA. (OMIM:601859)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: IEA. (OMIM:601859)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: IEA. (OMIM:601859)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: IEA. (OMIM:601859)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: IEA. (OMIM:601859)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: IEA. (OMIM:601859)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:601859)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: IEA. (OMIM:601859)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: IEA. (OMIM:601859)