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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Detalles Bibliográficos
Autores principales: Ricci, S., Abu-Rumeileh, S., Campagna, N., Barbati, F., Stagi, S., Canessa, C., Lodi, L., Palterer, B., Maggi, L., Matucci, A., Vultaggio, A., Annunziato, F., Azzari, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434558/
https://www.ncbi.nlm.nih.gov/pubmed/37600787
http://dx.doi.org/10.3389/fimmu.2023.1224603

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434558/
https://www.ncbi.nlm.nih.gov/pubmed/37600787
http://dx.doi.org/10.3389/fimmu.2023.1224603

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