autoimmune lymphoproliferative syndrome type 2A
A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. 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.
MONDO:0017979
autoimmune lymphoproliferative syndrome
is_a
ALPS-CASP10
exact
ALPS2A
exact
CASP10 autoimmune lymphoproliferative syndrome
exact
autoimmune lymphoproliferative syndrome caused by mutation in CASP10
exact
autoimmune lymphoproliferative syndrome, type II
exact
autoimmune lymphoproliferative syndrome, type IIA
related
autoimmune lymphoproliferative syndrome-CASP10 variant
exact
type 2 ALPS
exact
type 2 autoimmune lymphoproliferative syndrome
exact