Phenotypes associated with the disease X-linked lymphoproliferative disease due to XIAP deficiency (OMIM:300635):
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. (PMID:20489057)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: IEA. (OMIM:300635)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 7/8. (PMID:20489057)
- 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: IEA. (OMIM:300635)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: IEA. (OMIM:300635)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:300635)
- Hypofibrinogenemia (HP:0011900): Decreased concentration of fibrinogen in the blood. Evidence: PCS. Frequency: 7/8. (PMID:20489057)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: IEA. (OMIM:300635)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: IEA. (OMIM:300635)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 7/8. (PMID:20489057)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: PCS. Frequency: 8/9. (PMID:20489057)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: IEA. (OMIM:300635)
- Hemophagocytosis (HP:0012156): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. Frequency: 4/9. (PMID:20489057)
- Aplastic anemia (HP:0001915): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:300635)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: IEA. (OMIM:300635)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: IEA. (OMIM:300635)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. (OMIM:300635)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 9/10. (PMID:20489057)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:20489057)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:300635)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 9/10. (PMID:20489057)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:300635)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: IEA. (OMIM:300635)