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Related Collections Immunobiology Phagocytes Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 February 2001, Vol. 97, No. 4, pp. 1131-1133 BRIEF REPORT Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene Maurizio Arico, Shinsaku Imashuku, Rita Clementi, Shigeyoshi Hibi, Tomoko Teramura, Cesare Danesino, Daniel A. Haber, and Kim E. Nichols From the Department of Pediatrics, IRCCS Policlinico S. Matteo, Pavia, Italy; Children's Research Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan; Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy; Massachusetts General Hospital Cancer Center, Boston, MA; and Children's Hospital of Philadelphia, Philadelphia, PA. The hemophagocytic lymphohistiocytoses (HLH) comprise a heterogeneous group of disorders characterized by dysregulated activation of T cells and macrophages. Although some patients with HLH harbor perforin gene mutations, the cause of the remaining cases is not known. The phenotype of HLH bears a strong resemblance to X-linked lymphoproliferative disease (XLP), an Epstein-Barr virus (EBV)-associated immunodeficiency resulting from defects in SH2D1A, a small SH2 domain-containing protein expressed in T lymphocytes and natural killer cells. Here it is shown that 4 of 25 male patients with HLH who were examined harbored germline SH2D1A mutations. Among these 4 patients, only 2 had family histories consistent with XLP. On the basis of these findings, it is suggested that all male patients with EBV-associated hemophagocytosis be screened for mutations in SH2D1A. Patients identified as having XLP should undergo genetic counseling, and be followed long-term for development of lymphoma and hypogammaglobulinemia. © 2001 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Cesaro, F. Locatelli, E. Lanino, F. Porta, L. Di Maio, C. Messina, A. Prete, M. Ripaldi, N. Maximova, G. Giorgiani, et al. Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP) Haematologica, November 1, 2008; 93(11): 1694 - 1701. [Abstract] [Full Text] [PDF] N. Mahlaoui, M. Ouachee-Chardin, G. de Saint Basile, B. Neven, C. Picard, S. Blanche, and A. 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	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020