A Novel Splice Site Mutation in
IFN gamma signaling
IFNGR2 deficiency
gene therapy
immunodeficiency
infection
non-tuberculous mycobacteria
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
13
03
2019
accepted:
05
08
2019
entrez:
10
9
2019
pubmed:
10
9
2019
medline:
21
10
2020
Statut:
epublish
Résumé
Primary immunodeficiency (PID) refers to a group of heterogeneous genetic disorders with a weakened immune system. Mendelian susceptibility to mycobacterial disease (MSMD) is a subset of PID in which patients exhibit defects in intrinsic and innate immunity. It is a rare congenital disorder characterized by severe and recurrent infections caused by weakly virulent mycobacteria or other environmental mycobacteria. Any delay in definitive diagnosis poses a major concern due to the confounding nature of infections and immune deficiencies. Here, we report the clinical, immunological, and genetic characteristics of two siblings (infants) with recurrent infections. There was a history of death of two other siblings in the family after BCG vaccination. Whole exome sequencing of the two affected surviving infants along with their consanguineous parents identified a novel, homozygous single nucleotide splice acceptor site variant in intron 2 of the interferon gamma receptor 2 (
Identifiants
pubmed: 31497017
doi: 10.3389/fimmu.2019.01964
pmc: PMC6712061
doi:
Substances chimiques
IFNGR2 protein, human
0
RNA Splice Sites
0
Receptors, Interferon
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1964Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
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