Autoimmune lymphoproliferative syndrome (ALPS): a case with congenital onset.
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.
Kahwash
Samir B
SB
Department of Laboratory Medicine, Columbus Children's Hospital, Columbus, OH 43205, USA. kahwashs@chi.osu.edu
Fung
Bonita
B
Savelli
Stephanie
S
Bleesing
Jack J
JJ
Qualman
Stephen J
SJ
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
D017252:CD3 Complex