%0 Case Reports
%T Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.
%A Ricci S
%A Abu-Rumeileh S
%A Campagna N
%A Barbati F
%A Stagi S
%A Canessa C
%A Lodi L
%A Palterer B
%A Maggi L
%A Matucci A
%A Vultaggio A
%A Annunziato F
%A Azzari C
%J Front Immunol
%V 14
%N 0
%D 2023
%M 37600787
%F 8.786
%R 10.3389/fimmu.2023.1224603
%X 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.