| 1 | AK2, RTDG |
| 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 41(1):101-5. Epub 2008 Nov 30. 2009 | |
| 2 | AK2, RTDG |
| 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 41(1):106-11. Epub 2008 Nov 30. 2009 | |
| 3 | RTDG |
| Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes. | |
| Roper M, Parmley RT, Crist WM, Kelly DR, Cooper MD. | |
| Am J Dis Child 139(8):832-5. 1985 | |