Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.
NFKB1
common variable immunodeficiency
growth hormone
short stature
whole exome sequencing
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2023
2023
Historique:
received:
17
05
2023
accepted:
17
07
2023
medline:
22
8
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
epublish
Résumé
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the
Identifiants
pubmed: 37600787
doi: 10.3389/fimmu.2023.1224603
pmc: PMC10434558
doi:
Substances chimiques
NFKB1 protein, human
0
NF-kappa B p50 Subunit
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1224603Informations de copyright
Copyright © 2023 Ricci, Abu-Rumeileh, Campagna, Barbati, Stagi, Canessa, Lodi, Palterer, Maggi, Matucci, Vultaggio, Annunziato and Azzari.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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