The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Animals
COS Cells
Child, Preschool
Chlorocebus aethiops
Codon, Nonsense
DNA Mutational Analysis
/ methods
Female
Humans
Infant
Interleukin Receptor Common gamma Subunit
/ genetics
Male
Phenotype
Phosphorylation
STAT5 Transcription Factor
/ metabolism
Siblings
T-Lymphocytes
/ metabolism
X-Linked Combined Immunodeficiency Diseases
/ diagnosis
IL-2RG
JAK1
JAK3
STAT-5
X-linked severe combined immunodeficiency
hypomorphic mutations
interleukin receptor common gamma subunit
leaky SCID
whole exome sequencing
Journal
Clinical and experimental immunology
ISSN: 1365-2249
Titre abrégé: Clin Exp Immunol
Pays: England
ID NLM: 0057202
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
accepted:
28
11
2019
pubmed:
5
12
2019
medline:
28
7
2020
entrez:
5
12
2019
Statut:
ppublish
Résumé
In addition to their detection in typical X-linked severe combined immunodeficiency, hypomorphic mutations in the interleukin (IL)-2 receptor common gamma chain gene (IL2RG) have been described in patients with atypical clinical and immunological phenotypes. In this leaky clinical phenotype the diagnosis is often delayed, limiting prompt therapy in these patients. Here, we report the biochemical and functional characterization of a nonsense mutation in exon 8 (p.R328X) of IL2RG in two siblings: a 4-year-old boy with lethal Epstein-Barr virus-related lymphoma and his asymptomatic 8-month-old brother with a T
Identifiants
pubmed: 31799703
doi: 10.1111/cei.13405
pmc: PMC7066387
doi:
Substances chimiques
Codon, Nonsense
0
IL2RG protein, human
0
Interleukin Receptor Common gamma Subunit
0
STAT5 Transcription Factor
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
61-72Informations de copyright
© 2019 British Society for Immunology.
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