title: Autoimmune lymphoproliferative syndrome: a cause of chronic splenomegaly, lymphadenopathy, and cytopenias in children-report on diagnosis and management of five patients.
abstract: Autoimmune lymphoproliferative syndrome (ALPS) usually manifests in early childhood with splenomegaly, lymphadenopathy, and cytopenias. In most patients, it results from mutations in genes that regulate lymphocyte apoptosis via the Fas pathway. Here, we report five children with ALPS. All five children had splenomegaly, cytopenias, and hypertriglyceridemia at presentation; four had lymphadenopathy. Mutations in the Fas receptor gene were demonstrated in three children. Clinical picture is variable: in only one child manifestations are severe enough to require immunosuppressive therapy. Diagnosis of ALPS can be challenging and increased awareness of the disease can result in more directed diagnostic approaches as well as earlier initiation of treatment.
authors.affiliation: The AFLAC Cancer Center and Blood Disorders Service, Children's Healthcare of Atlanta at Egleston, USA. carlos_alvarado@oz.ped.emory.edu
authors.forename: Carlos S
authors.initials: CS
authors.lastname: Alvarado
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Straus
authors.forename: Shiyong
authors.initials: S
authors.lastname: Li
authors.forename: Janet K
authors.initials: JK
authors.lastname: Dale
authors.forename: Karen
authors.initials: K
authors.lastname: Mann
authors.forename: Anh
authors.initials: A
authors.lastname: Le
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Lauer
mesh_terms: D001327:Autoimmune Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005260:Female; D006402:Hematologic Diseases / Q000209:etiology*; D006801:Humans; D007223:Infant; D008206:Lymphatic Diseases / Q000209:etiology*; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D013163:Splenomegaly / Q000209:etiology*; D013577:Syndrome