Article
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
Nature genetics - 1 Jan 2009
Lagresle-Peyrou Chantal, Six Emmanuelle M, Picard Capucine, Rieux-Laucat Frédéric, Michel Vincent, Ditadi Andrea, Demerens-de Chappedelaine Corinne, Morillon Estelle, Valensi Françoise, Simon-Stoos Karen L, Mullikin James C, Noroski Lenora M, Besse Céline, Wulffraat Nicolas M, Ferster Alina, Abecasis Manuel M, Calvo Fabien, Petit Christine, Candotti Fabio, Abel Laurent, Fischer Alain, Cavazzana-Calvo Marina
Abstract excerpt
Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. In addition, affected newborns have bilateral sensorineural deafness. Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. These mutations result...
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