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- B8b21e2c4f8945811dafb1c9e955df126 NCIT_P378 "NCI" @default.
- B8b21e2c4f8945811dafb1c9e955df126 type Axiom @default.
- B8b21e2c4f8945811dafb1c9e955df126 annotatedProperty IAO_0000115 @default.
- B8b21e2c4f8945811dafb1c9e955df126 annotatedSource NCIT_C39574 @default.
- B8b21e2c4f8945811dafb1c9e955df126 annotatedTarget "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." @default.