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.
References
Mar 1, 1992·Preventive Medicine·D A KikuchiG S Berenson
Jun 1, 1967·The Journal of Pediatrics·V C Canale, C H Smith
Jun 16, 1995·Cell·G H FisherJ M Puck
Nov 28, 1996·The New England Journal of Medicine·J DrappaK B Elkon
Apr 9, 1998·International Immunology·Y KasaharaN Taniguchi
Nov 12, 1998·The American Journal of Pathology·M S LimE S Jaffe
Mar 26, 1999·American Journal of Human Genetics·C E JacksonJ M Puck
Apr 3, 1999·Annals of Internal Medicine·S E StrausW Strober
Jun 8, 1999·Annual Review of Immunology·M LenardoL Zheng
Mar 10, 2000·Pediatric Research·M van der BurgJ J van Dongen
May 9, 2001·Blood·U LopatinS E Straus
Jun 22, 2001·Blood·S E StrausM J Lenardo
Oct 6, 2001·Blood·J J BleesingT A Fleisher
Sep 28, 2002·Nature·Hyung J ChunMichael J Lenardo
Feb 7, 2003·Current Pharmaceutical Design·Jack J H Bleesing
Mar 26, 2003·Cell Death and Differentiation·F Rieux-LaucatA Fischer
Citations
Mar 23, 2010·The Journal of Steroid Biochemistry and Molecular Biology·Louise HarveyDarryl W Eyles
Apr 14, 2006·British Journal of Haematology·Austen WorthH Bobby Gaspar
Feb 3, 2007·American Journal of Hematology·Yae-Jean KimAmy D Klion
Nov 18, 2005·The Journal of Pediatrics·Jochen RösslerStephan Ehl
May 7, 2014·Biochimica Et Biophysica Acta·Jan Albert Kuivenhoven, Robert A Hegele
Sep 1, 2016·Case Reports in Immunology·Swetha SriramSeema Kumar
Feb 21, 2019·Scientific Reports·Jian LiWai Kit Chu