autoimmune lymphoproliferative syndrome type 1B
Definition A disorder (OMIM:601859) of apoptosis that manifests in early childhood with accumulation of autoreactive lymphocytes.
Clinical findings Benign lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, thrombocytopenia and neutropenia. FAS-mediated apoptosis may play a role in inducing peripheral tolerance and/or in antigen-stimulated suicide of mature T-cells
Molecular pathology Defects of FASLG, which encodes a cytokine involved in apoptosis, cause autoimmune lymphoproliferative syndrome type 1B.
Synonyms Autoimmune lymphoproliferative syndrome type 1—autosomal dominant, Canale-Smith syndrome