Shared Senior Authorship.
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)†
Version of Record online: 27 DEC 2010
Copyright © 2010 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 56, Issue 4, pages 654–657, April 2011
How to Cite
Macartney, C. A., Weitzman, S., Wood, S. M., Bansal, D., Steele, M., Meeths, M., Abdelhaleem, M. and Bryceson, Y. T. (2011), Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). Pediatr. Blood Cancer, 56: 654–657. doi: 10.1002/pbc.22676
Conflict of interest: Nothing to report.
- Issue online: 4 FEB 2011
- Version of Record online: 27 DEC 2010
- Manuscript Accepted: 5 MAY 2010
- Manuscript Received: 1 FEB 2010
- Swedish Society for Medical Research
- Mary Beve's Foundation
- David & Astrid Hagelen's Foundation
- Karolinska Institute Research Foundation
- Jonas Söderquist's Stipend
- hemophagocytic syndrome;
- syntaxin 11
Familial hemophagocytic lymphohistiocytosis (FHL) is typically an autosomal recessive, early-onset, life-threatening immune disorder. Loss-of-function mutations in STX11 have been found to impair NK cell degranulation and cytotoxicity. Here, we describe two unrelated infants of Punjabi descent presenting with FHL and carrying a novel, homozygous STX11 frameshift mutation [c.867dupG]. Western blot analysis indicated absence of syntaxin-11. Unexpectedly, degranulation by NK cells from one of the patients was not impaired, although patient NK cells showed mildly and significantly decreased cytotoxicity, respectively. Importantly, these observations imply that STX11 should be sequenced in HLH patients even when impaired NK cell degranulation is not found. Pediatr Blood Cancer 2011;56:654–657. © 2010 Wiley-Liss, Inc.