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

authors:

avatar Junbin Huang 1 , avatar Li Jiang 2 , avatar Xiaojun Wu 2 , avatar Yucai Cheng 1 , avatar Chun Chen 1 , avatar Hongman Xue 1 , *

Department of Pediatrics, The Seventh Affiliated Hospital, Sun Yat-Sen University, Shenzhen, China
Department of Pediatrics, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China

how 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. 2019;29(2):e82160. https://doi.org/10.5812/ijp.82160.

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. [PubMed ID: 25382070]. https://doi.org/10.1002/pbc.25308.

  • 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. [PubMed ID: 29549174]. https://doi.org/10.1182/blood-2017-10-812503.

  • 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 ID: 14622600].

  • 4.

    Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet. 2011;48(5):343-52. [PubMed ID: 21248318]. [PubMed Central ID: PMC4115201]. https://doi.org/10.1136/jmg.2010.085456.

  • 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. [PubMed ID: 15731905]. https://doi.org/10.1007/s00431-005-1636-9.

  • 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. [PubMed ID: 22226576]. https://doi.org/10.1016/j.jpeds.2011.11.046.

  • 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. [PubMed ID: 28270454]. [PubMed Central ID: PMC5766842]. https://doi.org/10.1182/blood-2016-12-753830.

  • 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. [PubMed ID: 27896523]. https://doi.org/10.1007/s10875-016-0357-3.

  • 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. [PubMed ID: 29410181]. https://doi.org/10.1016/j.bbmt.2018.01.022.