Article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Blood - 30 Oct 2014
Chakraborty Pranesh K, Schmitz-Abe Klaus, Kennedy Erin K, Mamady Hapsatou, Naas Turaya, Durie Danielle, Campagna Dean R, Lau Ashley, Sendamarai Anoop K, Wiseman Daniel H, May Alison, Jolles Stephen, Connor Philip, Powell Colin, Heeney Matthew M, Giardina Patricia-Jane, Klaassen Robert J, Kannengiesser Caroline, Thuret Isabelle, Thompson Alexis A, Marques Laura, Hughes Stephen, Bonney Denise K, Bottomley Sylvia S, Wynn Robert F, Laxer Ronald M, Minniti Caterina P, Moppett John, Bordon Victoria, Geraghty Michael, Joyce Paul B M, Markianos Kyriacos, Rudner Adam D, Holcik Martin, Fleming Mark D
Abstract excerpt
Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that...
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