Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6c90ecaf539d4607d47443c5ce9c3a26> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B6c90ecaf539d4607d47443c5ce9c3a26 NCIT_P378 "NCI" @default.
- B6c90ecaf539d4607d47443c5ce9c3a26 type Axiom @default.
- B6c90ecaf539d4607d47443c5ce9c3a26 annotatedProperty IAO_0000115 @default.
- B6c90ecaf539d4607d47443c5ce9c3a26 annotatedSource NCIT_C39574 @default.
- B6c90ecaf539d4607d47443c5ce9c3a26 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.