title: Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset.
abstract: We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy. Our documented close follow up demonstrated initial involvement of the spleen, followed by involvement of the bone marrow and the peripheral blood. The patient underwent bone marrow transplant and is alive and well 20 months after diagnosis.
authors.affiliation: Department of Laboratory Medicine, Columbus Children's Hospital, Columbus, OH 43205, USA. kahwashs@chi.osu.edu
authors.forename: Samir B
authors.initials: SB
authors.lastname: Kahwash
authors.forename: Bonita
authors.initials: B
authors.lastname: Fung
authors.forename: Stephanie
authors.initials: S
authors.lastname: Savelli
authors.forename: Jack J
authors.initials: JJ
authors.lastname: Bleesing
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Qualman
mesh_terms: D000015:Abnormalities, Multiple; D001327:Autoimmune Diseases / Q000151:congenital / Q000473:pathology* / Q000628:therapy; D016026:Bone Marrow Transplantation; D017252:CD3 Complex / Q000378:metabolism; D004200:Diseases in Twins; D006801:Humans; D007231:Infant, Newborn; D007565:Jaundice / Q000151:congenital / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000151:congenital / Q000473:pathology* / Q000628:therapy; D008297:Male; D013163:Splenomegaly / Q000151:congenital / Q000473:pathology / Q000601:surgery; D013577:Syndrome; D013601:T-Lymphocytes / Q000378:metabolism / Q000473:pathology; D013921:Thrombocytopenia / Q000151:congenital / Q000473:pathology; D016896:Treatment Outcome; D014427:Twins
chemical_list: D017252:CD3 Complex