Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion-Reference-Cited by-同舟云学术

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

Published:2015-03-05 Issue:10 Volume:125 Page:1566-1577
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Spessott Waldo A.¹,Sanmillan Maria L.¹,McCormick Margaret E.¹,Patel Nishant²,Villanueva Joyce³,Zhang Kejian⁴,Nichols Kim E.⁵,Giraudo Claudio G.¹

Affiliation:

1. Department of Pathology and Laboratory Medicine, and

2. Division of Oncology, Department of Pediatrics, The Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA;

3. Division of Bone Marrow Transplant and Immune Deficiency, and

4. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; and

5. Division of Cancer Predisposition, Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN

Abstract

Key Points Monoallelic STXBP2 mutations affecting codon 65 impair lymphocyte cytotoxicity and contribute to hemophagocytic lymphohistiocytosis. Munc18-2R65Q/W mutant proteins function in a dominant-negative manner to impair membrane fusion and arrest SNARE-complex assembly.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/125/10/1566/1383295/1566.pdf

Reference41 articles.

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3. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.;zur Stadt;Hum Mol Genet,2005

4. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.;Côte;J Clin Invest,2009

5. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.;zur Stadt;Am J Hum Genet,2009

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