Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene

M. Arico, S. Imashuku, R. Clementi, S. Hibi, T. Teramura, C. Danesino, D. A. Haber, K. E. Nichols

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1131-1133
Number of pages3
JournalBlood
Volume97
Issue number4
DOIs
Publication statusPublished - Feb 15 2001

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene'. Together they form a unique fingerprint.

  • Cite this

    Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura, T., Danesino, C., Haber, D. A., & Nichols, K. E. (2001). Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood, 97(4), 1131-1133. https://doi.org/10.1182/blood.V97.4.1131