autoimmune lymphoproliferative syndrome type 1B (ALPS1B, Canale-Smith syndrome, CSS)

Genetics: - associated with defects in FasL gene - defects in FASL are the cause of autoimmune lymphoproliferative syndrome type 1B (ALPS1B) Clinical manifestations: - childhood syndrome - hemolytic anemia & thrombocytopenia - massive lymphadenopathy - splenomegaly Laboratory: - complete blood count a) hemolytic anemia b) thrombocytopenia - reticulocytes may be elevated with hemolysis - haptoglobin may be depressed with hemolysis - peripheral blood smear for evidence of hemolysis - direct antiglobulin test

References

- Straus SE et al An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Int Med 130:591-601, 1999 PMID: 10189330