Phenotypes associated with the disease autoimmune lymphoproliferative syndrome type 2A (OMIM:603909):
- Iron deficiency anemia (HP:0001891). Evidence: IEA. (OMIM:603909)
- Antineutrophil antibody positivity (HP:0003453): The presence of autoantibodies in the serum that react against neutrophils. Evidence: IEA. (OMIM:603909)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: IEA. (OMIM:603909)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: IEA. (OMIM:603909)
- Platelet antibody positive (HP:0003454): The presence in the serum of autoantibodies directed against thrombocytes. Evidence: IEA. (OMIM:603909)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: IEA. (OMIM:603909)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. (PMID:16446975)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 1/1. (PMID:10412980)
- Malar rash (HP:0025300): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: TAS. (OMIM:603909)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:10412980)
- 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:603909)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:10412980)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: PCS. (PMID:16446975)
- 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:603909)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:10412980)
- Increased total B cell count (HP:0005404): The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group. Evidence: IEA. (OMIM:603909)
- 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:603909)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: IEA. (OMIM:603909)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 1/1. (PMID:10412980)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: IEA. (OMIM:603909)
- 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: PCS. Frequency: 1/1. (PMID:10412980)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: IEA. (OMIM:603909)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:603909)
- Reduced delayed hypersensitivity (HP:0002972): Decreased ability to react to a delayed hypersensitivity skin test. Evidence: IEA. (OMIM:603909)
- 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:603909)
- Anti-smooth muscle antibody positivity (HP:0003262): The presence in serum of antibodies against smooth muscle. Evidence: IEA. (OMIM:603909)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: IEA. (OMIM:603909)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: IEA. (OMIM:603909)
- Petechiae (HP:0000967): Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. Evidence: IEA. (PMID:16446975)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: PCS. Frequency: 1/1. (PMID:10412980)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: IEA. (OMIM:603909)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: IEA. (OMIM:603909)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. (PMID:16446975)
- 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: PCS. (PMID:10412980)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: PCS. Frequency: 20/20. (OMIM:603909;PMID:16446975)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. (PMID:16446975)