Article
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Blood - 4 Jul 2013
Wiseman Daniel H, May Alison, Jolles Stephen, Connor Philip, Powell Colin, Heeney Matthew M, Giardina Patricia J, Klaassen Robert J, Chakraborty Pranesh, Geraghty Michael T, Major-Cook Nathalie, Kannengiesser Caroline, Thuret Isabelle, Thompson Alexis A, Marques Laura, Hughes Stephen, Bonney Denise K, Bottomley Sylvia S, Fleming Mark D, Wynn Robert F
Abstract excerpt
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical information on cases of CSA lacking known causative mutations, identifying a clinical subgroup of CSA associated with B...
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