Cytomegalovirus infection in infants with autoimmune lymphoproliferative syndrome (ALPS)

Fas-mediated apoptosis may be one of the effector pathways leading to the e limination of virus-infected cells. Cytomegalovirus (CMV) infection in two brothers with Fas deficiency associated with autoimmunity and benign lympho proliferation (ALPS) provided a unique opportunity to study the clinical co urse of CMV infection in children with defective apoptosis. The clinical co urses of two brothers with autosomal dominant ALPS who were infected with C MV in the neonatal period are described. CMV was detected from throat and u rine culture from the brothers. ALPS was confirmed by in vitro anti-CD95 Mo Ab-induced T lymphocyte apoptosis assay and subsequent sequencing and ident ification of mutations in the Fas gene. A de novo mutation in the Fas gene, leading to a truncated cytoplasmic Fas product, was associated with autoso mal dominant ALPS in a mother and her two sons. Both boys had evidence of C MV infection acquired early in infancy which cleared by the age of 2-3 year s. There were no neurodevelopmental sequelae. The natural history of CMV in fection in two infants with ALPS was similar to that described in normal ch ildren.