Alku mutation publications [2009] Search PubMed latest citations for AK2 mutations 2009 Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Pannicke U, Hönig M, Hess I, Friesen C, Holzmann K, Rump EM, Barth TF, Rojewski MT, Schulz A, Boehm T, Friedrich W, Schwarz K Nat Genet 2009(1): 101-5 [PubMed abstract]. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, Demerens-de Chappedelaine C, Morillon E, Valensi F, Simon-Stoos KL, Mullikin JC, Noroski LM, Besse C, Wulffraat NM, Ferster A, Abecasis MM, Calvo F, Petit C, Candotti F, Abel L, Fischer A, Cavazzana-Calvo M Nat Genet 2009(1): 106-11 [PubMed abstract].