{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T03:30:52Z","timestamp":1792467052457,"version":"4.5.0"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats: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 <jats:italic>NFKB1<\/jats:italic> gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing <jats:italic>NFKB1<\/jats:italic> haploinsufficiency. The variant was considered pathogenic and was later found in the patient\u2019s mother, also affected by CVID. This is the first reported case of a patient with CVID due to <jats:italic>NFKB1<\/jats:italic> mutation presenting with short stature. We analyzed the interconnection between <jats:italic>NFKB1<\/jats:italic> and GH \u2013 IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.<\/jats:p>","DOI":"10.3389\/fimmu.2023.1224603","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T08:09:41Z","timestamp":1691050181000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short 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