- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3261)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3261)
- Chronic noninfectious lymphadenopathy (HP:0002730): A chronic form of lymphadenopathy that is not related to infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3261)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3261)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Abnormal T cell apoptosis (HP:0030886): Abnormal 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Increased circulating interleukin 10 concentration (HP:0033199): An elevation of the concentration of interleukin 10 in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Decreased specific anti-polysaccharide antibody concentration (HP:0002848): The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Antineutrophil antibody positivity (HP:0003453): The presence of autoantibodies in the serum that react against neutrophils. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Coombs-positive hemolytic anemia (HP:0004844): A type of hemolytic anemia in which the Coombs test is positive. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- T-cell lymphoma (HP:0012190): A type of lymphoma that originates in T-cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- B-cell lymphoma (HP:0012191): A type of lymphoma that originates in B-cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Non-Hodgkin lymphoma (HP:0012539): A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Burkitt lymphoma (HP:0030080): A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Abnormal CD4+ T cell subset proportion (HP:0031392): Abnormal increase or decrease of any 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Abnormal total CD8+ T cell number (HP:0031393): Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or 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. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Increased circulating interleukin 18 concentration (HP:0034447): An increased concentration of interleukin-18 in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Abnormal vitamin B12 concentration (HP:0004341): The concentration of vitamin B12 (or one of its metabolites) in the blood circulation is outside the limits of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Increased total lymphocyte count (HP:0100827): Increase in the number or proportion of lymphocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Elevated circulating vitamin B12 concentration (HP:6000016): Concentration of vitamin B12 in the blood circulation above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Elevated circulating sFASL concentration (HP:6000017): The concentration of sFASL (soluble FASL, soluble FAS-ligand) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3261)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Pulmonary infiltrates (HP:0002113). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Thyroid carcinoma (HP:0002890): The presence of a carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Gastritis (HP:0005263): The presence of inflammation of the gastric mucous membrane. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Fibroadenoma of the breast (HP:0010619): A benign biphasic tumor of the breast with epithelial and stromal components. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Panniculitis (HP:0012490): Inflammation of subcutaneous adipose tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Bone marrow hypercellularity (HP:0031020): A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Neoplasm of the tongue (HP:0100648): A tumor (abnormal growth of tissue) of the tongue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3261)
- Abnormal circulating interleukin concentration (HP:0011117): The concentration of an interleukin (a class of cytokines) is outside the limits of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3261)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ 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. Frequency: Occasional (HP:0040283). (ORPHA:3261)
These phenotypes are associated with the disease Autoimmune lymphoproliferative syndrome (ORPHA:3261).