Whole exome sequencing identifies compound heterozygous variants of
Respiratory medicine
allergy/immunology
paediatric
primary immunodeficiencies
whole exome sequencing
Journal
SAGE open medicine
ISSN: 2050-3121
Titre abrégé: SAGE Open Med
Pays: England
ID NLM: 101624744
Informations de publication
Date de publication:
2020
2020
Historique:
received:
05
09
2019
accepted:
26
03
2020
entrez:
18
6
2020
pubmed:
18
6
2020
medline:
18
6
2020
Statut:
epublish
Résumé
A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients. Lymphocyte subset enumeration test and whole exome sequencing were performed. We identified a compound heterozygous Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in
Identifiants
pubmed: 32547748
doi: 10.1177/2050312120922652
pii: 10.1177_2050312120922652
pmc: PMC7249565
doi:
Types de publication
Journal Article
Langues
eng
Pagination
2050312120922652Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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