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. 

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

JOURNAL=Frontiers in Immunology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2023.1224603

DOI=10.3389/fimmu.2023.1224603

ISSN=1664-3224

ABSTRACT=<p>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 <italic>NFKB1</italic> gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing <italic>NFKB1</italic> 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 <italic>NFKB1</italic> mutation presenting with short stature. We analyzed the interconnection between <italic>NFKB1</italic> and GH – IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.</p>