{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15"],"submitter":["Brue T"],"pubmed_abstract":["<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 of"],"journal":["BMC medical genetics"],"pagination":["139"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4411703"],"repository":["biostudies-literature"],"pubmed_title":["Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies."],"pmcid":["PMC4411703"],"pubmed_authors":["Drouin J","Van Vliet G","Patry L","Schwartzentruber J","Brue T","Nassif C","Takayasu S","Enjalbert A","Hasselmann C","Delemer B","Souchon PF","Capo-Chichi JM","Samuels ME","Khetchoumian K","Balsalobre A","Pagnier A","Majewski J","Bensa M","Papadimitriou DT","Quentien MH"],"additional_accession":[]},"is_claimable":false,"name":"Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.","description":"<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 of","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Dec","modification":"2026-06-08T06:36:31.042Z","creation":"2019-03-27T01:50:37Z"},"accession":"S-EPMC4411703","cross_references":{"pubmed":["25524009"],"doi":["10.1186/s12881-014-0139-9"]}}