obsolete autoimmune lymphoproliferative syndrome type 3 (obsolete MONDO:0014253)
OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. 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.
ALPS-U
exact
ALPS3
exact
CVID9
exact
PRKCD autoimmune lymphoproliferative syndrome
exact
autoimmune lymphoproliferative syndrome caused by mutation in PRKCD
exact
autoimmune lymphoproliferative syndrome type III
exact
autoimmune lymphoproliferative syndrome, type III
related
autoimmune lymphoproliferative syndrome-undetermined variant
exact
common variable immunodeficiency 9
exact
type 3 ALPS
exact