Iranian Journal of Pediatrics

Published by: Kowsar

Familial Hemophagocytic Lymphohistiocytosis Type 3: Early Disease Onset and Unusual Manifestation in Sibling Cases

Junbin Huang 1 , Li Jiang 2 , Xiaojun Wu 2 , Yucai Cheng 1 , Chun Chen 1 and Hongman Xue 1 , *
Authors Information
1 Department of Pediatrics, The Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, China
2 Department of Pediatrics, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China
Article information
  • Iranian Journal of Pediatrics: 29 (2); e82160
  • Published Online: February 17, 2019
  • Article Type: Letter
  • Received: July 14, 2018
  • Revised: December 20, 2018
  • Accepted: January 3, 2019
  • DOI: 10.5812/ijp.82160

To Cite: Huang J, Jiang L, Wu X, Cheng Y, Chen C, et al. Familial Hemophagocytic Lymphohistiocytosis Type 3: Early Disease Onset and Unusual Manifestation in Sibling Cases, Iran J Pediatr. Online ahead of Print ; 29(2):e82160. doi: 10.5812/ijp.82160.

Copyright © 2019, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
Footnotes
References
  • 1. Meeths M, Horne A, Sabel M, Bryceson YT, Henter JI. Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden. Pediatr Blood Cancer. 2015;62(2):346-52. doi: 10.1002/pbc.25308. [PubMed: 25382070].
  • 2. Shibata H, Yasumi T, Shimodera S, Hiejima E, Izawa K, Kawai T, et al. Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis. Blood. 2018;131(18):2016-25. doi: 10.1182/blood-2017-10-812503. [PubMed: 29549174].
  • 3. Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003;115(4):461-73. [PubMed: 14622600].
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  • 5. Imashuku S, Ueda I, Teramura T, Mori K, Morimoto A, Sako M, et al. Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: Analysis of 96 patients. Eur J Pediatr. 2005;164(5):315-9. doi: 10.1007/s00431-005-1636-9. [PubMed: 15731905].
  • 6. Xu XJ, Tang YM, Song H, Yang SL, Xu WQ, Zhao N, et al. Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children. J Pediatr. 2012;160(6):984-90 e1. doi: 10.1016/j.jpeds.2011.11.046. [PubMed: 22226576].
  • 7. Rubin TS, Zhang K, Gifford C, Lane A, Choo S, Bleesing JJ, et al. Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. Blood. 2017;129(22):2993-9. doi: 10.1182/blood-2016-12-753830. [PubMed: 28270454]. [PubMed Central: PMC5766842].
  • 8. Hori M, Yasumi T, Shimodera S, Shibata H, Hiejima E, Oda H, et al. A CD57(+) CTL degranulation assay effectively identifies familial hemophagocytic lymphohistiocytosis type 3 patients. J Clin Immunol. 2017;37(1):92-9. doi: 10.1007/s10875-016-0357-3. [PubMed: 27896523].
  • 9. Messina C, Zecca M, Fagioli F, Rovelli A, Giardino S, Merli P, et al. Outcomes of children with hemophagocytic lymphohistiocytosis given allogeneic hematopoietic stem cell transplantation in Italy. Biol Blood Marrow Transplant. 2018;24(6):1223-31. doi: 10.1016/j.bbmt.2018.01.022. [PubMed: 29410181].

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