Asymptomatic Infant With Atypical SCID and Novel Hypomorphic
HSCT
SCID
asymptomatic infant
immunodeficiency
newborn screening
recombinase activating gene (RAG)
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
04
2020
accepted:
20
07
2020
entrez:
29
10
2020
pubmed:
30
10
2020
medline:
20
4
2021
Statut:
epublish
Résumé
The T-cell receptor excision circle (TREC) assay detects T-cell lymphopenia (TCL) in newborns and is especially important to identify severe combined immunodeficiency (SCID). A spectrum of SCID variants and non-SCID conditions that present with TCL are being discovered with increasing frequency by newborn screening (NBS). Recombination-activating gene (RAG) deficiency is one the most common causes of classical and atypical SCID and other conditions with immune dysregulation. We present the case of an asymptomatic male with undetectable TRECs on NBS at 1 week of age. The asymptomatic newborn was found to have severe TCL, but normal B cell quantities and lymphocyte proliferation upon mitogen stimulation. Next generation sequencing revealed compound heterozygous hypomorphic
Identifiants
pubmed: 33117328
doi: 10.3389/fimmu.2020.01954
pmc: PMC7552884
doi:
Substances chimiques
Homeodomain Proteins
0
RAG-1 protein
128559-51-3
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1954Subventions
Organisme : NIAID NIH HHS
ID : R01 AI100887
Pays : United States
Informations de copyright
Copyright © 2020 Chitty-Lopez, Westermann-Clark, Dawson, Ujhazi, Csomos, Dobbs, Le, Yamazaki, Sadighi Akha, Chellapandian, Oshrine, Notarangelo, Sunkersett, Leiding and Walter.
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