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Article

Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.

International journal of hematology - 1 Aug 2017

Mukda Ekchol, Trachoo Objoon, Pasomsub Ekawat, Tiyasirichokchai Rawiphorn, Iemwimangsa Nareenart, Sosothikul Darintr, Chantratita Wasun, Pakakasama Samart

Abstract excerpt

In the present study, we used exome sequencing to analyze PRF1, UNC13D, STX11, and STXBP2, as well as genes associated with primary immunodeficiency disease (RAB27A, LYST, AP3B1, SH2D1A, ITK, CD27, XIAP, and MAGT1) in Thai children with hemophagocytic lymphohistiocytosis (HLH). We performed mutation analysis of HLH-associated genes in 25 Thai children using an exome sequencing method. Genetic variations found...

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Source

Identifiers

PMID: 28353193
DOI: 10.1007/s12185-017-2223-3

Genes

LYST
MAGT1
PRF1
STXBP2
XIAP
ITK
STX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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