Article
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
BMC medical genetics - 19 Dec 2014
Brue Thierry, Quentien Marie-Hélène, Khetchoumian Konstantin, Bensa Marco, Capo-Chichi José-Mario, Delemer Brigitte, Balsalobre Aurelio, Nassif Christina, Papadimitriou Dimitris T, Pagnier Anne, Hasselmann Caroline, Patry Lysanne, Schwartzentruber Jeremy, Souchon Pierre-François, Takayasu Shinobu, Enjalbert Alain, Van Vliet Guy, Majewski Jacek, Drouin Jacques, Samuels Mark E
Abstract excerpt
BACKGROUND: 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. METHODS: We...
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