Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

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 NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift...

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Bibliographic Details
Main Authors: S. Ricci, S. Abu-Rumeileh, N. Campagna, F. Barbati, S. Stagi, C. Canessa, L. Lodi, B. Palterer, L. Maggi, A. Matucci, A. Vultaggio, F. Annunziato, C. Azzari
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Immunology
Subjects:
NFKB1
whole exome sequencing
common variable immunodeficiency
short stature
growth hormone
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1224603/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2023.1224603/full

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