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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
Blood, Volume 116, No. 15, Year 2010
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Description
Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells in patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity among 11 persons studied here was highly variable and, accordingly, age at diagnosis ranged from 2 months to 17 years. Remarkably, in addition to typical manifestations of familial HLH (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell - associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical manifestations other than those typically associated with HLH. © 2010 by The American Society of Hematology.
Authors & Co-Authors
Meeths, Marie
Sweden, Stockholm
Karolinska Universitetssjukhuset
Entesarian, Miriam
Sweden, Stockholm
Karolinska Universitetssjukhuset
Al-Herz, Waleed
Kuwait
Al-sabah Hospital
Chiang, Samuel Cern Cher
Sweden, Stockholm
Karolinska Universitetssjukhuset
Wood, Stephanie M.
Sweden, Stockholm
Karolinska Universitetssjukhuset
Al-Ateeqi, Wafa
Kuwait, Kuwait City
Al-ameri Hospital
Almazan, Francisco
Spain, Badalona
Hospital Universitari Germans Trias I Pujol
Boelens, Jaap Jan
Netherlands, Utrecht
Wilhelmina Kinderziekenhuis
Hasle, Henrik
Denmark, Aarhus
Aarhus Universitetshospital
Ifversen, Marianne R.S.
Denmark, Copenhagen
Rigshospitalet
Lund, Bendik
Norway, Trondheim
Universitetssykehuset I Trondheim
van den Berg, J. Merlijn
Netherlands, Amsterdam
Universiteit Van Amsterdam
Gustafsson, B.
Sweden, Stockholm
Karolinska Universitetssjukhuset
Hjelmqvist, Hans
Sweden, Stockholm
Karolinska Universitetssjukhuset
Nordenskjöld, Magnus
Sweden, Stockholm
Karolinska Universitetssjukhuset
Bryceson, Yenan Troi
Sweden, Stockholm
Karolinska Universitetssjukhuset
Henter, Jan Inge
Sweden, Stockholm
Karolinska Universitetssjukhuset
Statistics
Citations: 119
Authors: 17
Affiliations: 9
Identifiers
Doi:
10.1182/blood-2010-05-282541
ISSN:
00064971
Research Areas
Cancer