has material basis in germline mutation in CASP10 autoimmune lymphoproliferative syndrome type 2A https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autoimmune_lymphoproliferative_syndrome_type_iia UMLS:C1858968 autoimmune lymphoproliferative syndrome-CASP10 variant autoimmune lymphoproliferative syndrome caused by mutation in CASP10 type 2 autoimmune lymphoproliferative syndrome MONDO:0011383 MEDGEN:349065 type 2 ALPS autoimmune lymphoproliferative syndrome, type IIA CASP10 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome, type II OMIM:603909 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. DOID:0110115 ALPS-CASP10 ALPS2A GARD:0015361 NCIT:C39576 MESH:C565833 autoimmune lymphoproliferative syndrome