{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T10:07:32Z","timestamp":1791022052748,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Neuroendocrinology"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary hypogammaglobulinemia. It is due to heterozygous mutations of the nuclear factor kappa\u2010B subunit 2 (\n                    <jats:italic>NFKB2<\/jats:italic>\n                    ) gene. Only a few isolated cases have been reported since its first description by our team. Through the international multicenter GENHYPOPIT network, we identified a new case of DAVID syndrome. We then conducted an extensive review of the DAVID syndrome cases published from 2012 to 2022. A 7\u2010year\u2010old boy was diagnosed with symptomatic hypoglycemia revealing ACTH deficiency. Laboratory tests showed asymptomatic hypogammaglobulinemia. He harbored a heterozygous point mutation in\n                    <jats:italic>NFKB2<\/jats:italic>\n                    gene (c.2600C\u2009&gt;\u2009T, p.Ala867Val). His management included hydrocortisone replacement treatment, and he also received subcutaneous immunoglobulins during the Covid\u201019 pandemic. We analyzed 28 cases of DAVID syndrome with ACTH deficiency. ACTH deficiency was the only hormone deficiency in 79% of patients, but some patients harbored growth hormone (GH) and thyroid stimulating hormone (TSH) deficiencies. The first presenting symptoms were sinus\/pulmonary infections (82%, mean age of 3\u2009years) and alopecia (mean age of 4.7\u2009years). ACTH deficiency was the third presenting condition (mean age at diagnosis of 8.6\u2009years). All patients had hypogammaglobulinemia (decreased IgA and IgM levels), and 57% of patients had at least one autoimmune manifestation. Heterozygous mutations at the 3\u2032end of the\n                    <jats:italic>NFKB2<\/jats:italic>\n                    gene, coding for the C\u2010terminal domain of the protein, were identified in all cases. Better knowledge of DAVID syndrome will help clinicians make an early diagnosis to avoid life\u2010threatening complications.\n                  <\/jats:p>","DOI":"10.1111\/jne.13287","type":"journal-article","created":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T14:23:48Z","timestamp":1683383028000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3746-2669","authenticated-orcid":false,"given":"Thi Thom","family":"Mac","sequence":"first","affiliation":[{"name":"Aix Marseille University, UMR1251, MMG \u2013 Marseille Medical Genetics \u2013 MarMaRa Institute Faculty of Medicine  Marseille France"},{"name":"Endocrinology Department Hanoi Medical University Hospital  Hanoi 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