Article
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
American journal of medical genetics. Part A - 1 Dec 2015
Segarra Nuria Garcia, Ballhausen Diana, Crawford Heather, Perreau Matthieu, Campos-Xavier Belinda, van Spaendonck-Zwarts Karin, Vermeer Cees, Russo Michel, Zambelli Pierre-Yves, Stevenson Brian, Royer-Bertrand Beryl, Rivolta Carlo, Candotti Fabio, Unger Sheila, Munier Francis L, Superti-Furga Andrea, Bonafé Luisa
Abstract excerpt
We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells,...
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