Phenotypes associated with the disease X-linked lymphoproliferative disease due to XIAP deficiency (ORPHA:538934):
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:538934)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Jejunoileal ulceration (HP:0005229). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Splenic hemophagocytosis (HP:0034799): Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:538934)
- 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: Occasional (HP:0040283). (ORPHA:538934)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- 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: Occasional (HP:0040283). (ORPHA:538934)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Cutaneous abscess (HP:0031292): A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Severe Epstein Barr virus infection (HP:0031693): An unusually severe Epstein Barr virus (EBV) infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Reduced total natural killer cell count (HP:0040218): The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:538934)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:538934)