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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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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:
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
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author 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.
author_facet 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.
author_sort Ricci, S.
collection PubMed
description 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 and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient’s mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH – IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.
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spelling pubmed-104345582023-08-18 Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature 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. Front Immunol Immunology 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 and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient’s mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH – IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient. Frontiers Media S.A. 2023-08-03 /pmc/articles/PMC10434558/ /pubmed/37600787 http://dx.doi.org/10.3389/fimmu.2023.1224603 Text en Copyright © 2023 Ricci, Abu-Rumeileh, Campagna, Barbati, Stagi, Canessa, Lodi, Palterer, Maggi, Matucci, Vultaggio, Annunziato and Azzari https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
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.
Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title_full Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title_fullStr Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title_full_unstemmed Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title_short Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
title_sort case report: a child with nfkb1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
topic Immunology
url 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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