biostudies-literatureUnknown15Brue T<h4>Background</h4>DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated.<h4>Methods</h4>We ascertained six unrelated DAVID syndrome families. We performed whole exome and traditional Sanger sequencing to search for causal genes. Lym1 mice were examined for endocrine developmental anomalies.<h4>Results</h4>Mutations in the NFKB2 gene were identified in three of our families through whole exome sequencing, and in a fourth by direct Sanger sequencing. De novo origin ofBMC medical genetics139https://www.ebi.ac.uk/biostudies/studies/S-EPMC4411703biostudies-literatureMutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.PMC4411703Drouin JVan Vliet GPatry LSchwartzentruber JBrue TNassif CTakayasu SEnjalbert AHasselmann CDelemer BSouchon PFCapo-Chichi JMSamuels MEKhetchoumian KBalsalobre APagnier AMajewski JBensa MPapadimitriou DTQuentien MHfalseMutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.<h4>Background</h4>DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated.<h4>Methods</h4>We ascertained six unrelated DAVID syndrome families. We performed whole exome and traditional Sanger sequencing to search for causal genes. Lym1 mice were examined for endocrine developmental anomalies.<h4>Results</h4>Mutations in the NFKB2 gene were identified in three of our families through whole exome sequencing, and in a fourth by direct Sanger sequencing. De novo origin of2014-01-01T00:00:00Z2014 Dec2026-06-08T06:36:31.042Z2019-03-27T01:50:37ZS-EPMC44117032552400910.1186/s12881-014-0139-9