Deepak Bansal MD

Publications (1)1.89 Total impact

• Article: Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)

  Christine A. Macartney MB, MRCP, FRCPath, FRCP Sheila Weitzman MB BCh, Stephanie M. Wood PhD, Deepak Bansal MD, FRCPC MacGregor Steele MD, Marie Meeths MD, Mohamed Abdelhaleem MD, PhD, FRCPC, Yenan T. Bryceson PhD, Christine A. Macartney, Sheila Weitzman, Stephanie M. Wood, Deepak Bansal, MacGregor Steele, Marie Meeths, Mohamed Abdelhaleem, Yenan T. Bryceson
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  ABSTRACT: 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.
  Pediatric Blood & Cancer 03/2011; 56(4):654 - 657. · 1.89 Impact Factor