Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis

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...

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Bibliographic Details
Published in:International journal of hematology 2017-08, Vol.106 (2), p.282-290
Main Authors: Mukda, Ekchol, Trachoo, Objoon, Pasomsub, Ekawat, Tiyasirichokchai, Rawiphorn, Iemwimangsa, Nareenart, Sosothikul, Darintr, Chantratita, Wasun, Pakakasama, Samart
Format: Article
Language:English
Subjects:
Benign
CD27 antigen
Child
Children
DNA Mutational Analysis - methods
Exome - genetics
Gene frequency
Gene sequencing
Genes
Genetic Association Studies
Genetic diversity
Genetic Testing - methods
Hematology
Histiocytosis
Humans
Immunodeficiency
Indexing
Itk protein
Lymphatic diseases
Lymphocytosis
Lymphohistiocytosis, Hemophagocytic - diagnosis
Lymphohistiocytosis, Hemophagocytic - genetics
Medical diagnosis
Medical screening
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Molecular Diagnostic Techniques
Multigene Family - genetics
Mutation
Oncology
Original Article
Patients
Perforin - genetics
Polymorphism, Single Nucleotide
Primary immunodeficiencies
Qa-SNARE Proteins - genetics
rab GTP-Binding Proteins - genetics
rab27 GTP-Binding Proteins
Sequence Analysis, DNA - methods
SH2D1A protein
Single-nucleotide polymorphism
Vesicular Transport Proteins - genetics
XIAP protein
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Description
Summary: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 within these target genes were compared to exome sequencing data from 133 healthy individuals. Variants identified with minor allele frequencies
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-017-2223-3