Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

Nature Genetics

Volumn 41, Issue 1, 2009, Pages 101-105

  Pannicke, Ulrich ^a   Hönig, Manfred ^a,b   Hess, Isabell ^c   Friesen, Claudia ^b   Holzmann, Karlheinz ^b   Rump, Eva Maria ^d   Barth, Thomas F ^b   Rojewski, Markus T ^a,d   Schulz, Ansgar ^b   Boehm, Thomas ^c   Friedrich, Wilhelm ^b   Schwarz, Klaus ^a,d  

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY HOSPITAL ULM   (Germany)

^c MAX PLANCK INSTITUTE OF IMMUNOBIOLOGY AND EPIGENETICS   (Germany)

^d German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE KINASE; ADENYLATE KINASE 2; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL DIFFERENTIATION; CELL MATURATION; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMBRYO; ENERGY METABOLISM; FEMALE; GENE MUTATION; GENETIC CONSERVATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; MALE; MITOCHONDRION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETICULAR DYSGENESIS; SEVERE COMBINED IMMUNODEFICIENCY; ZEBRA FISH;

ADENYLATE KINASE; ANIMALS; APOPTOSIS; BONE MARROW CELLS; CELL LINE; EMBRYO, NONMAMMALIAN; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; ISOENZYMES; LEUKOCYTES, MONONUCLEAR; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MITOCHONDRIA; MUTATION; REACTIVE OXYGEN SPECIES; SEVERE COMBINED IMMUNODEFICIENCY; ZEBRAFISH;

DANIO RERIO;

EID: 58149142930     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.265     Document Type: Article

References (20)

1. Geha, R.S. et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J. Allergy Clin. Immunol. 120, 776-794 (2007).
2. Alonso, K., Dew, J.M. & Starke, W.R. Thymic alymphoplasia and congenital aleukocytosis (reticular dysgenesia). Arch. Pathol. 94, 179-183 (1972).
3. de Vaal, O. & Seynhaeve, V. Reticular dysgenesia. Lancet 2, 1123-1125 (1959).
4. Emile, J.F., Durandy, A., Le Deist, F., Fischer, A. & Brousse, N. Epidermal Langerhans' cells in children with primary T-cell immune deficiencies. J. Pathol. 183, 70-74 (1997).
5. Espanol, T. et al. Reticular dysgenesis: report of two brothers. Clin. Exp. Immunol. 38, 615-620 (1979).
6. Gitlin, D., Vawter, G. & Craig, J.M. Thymic alymphoplasia and congenital aleukocytosis. Pediatrics 33, 184-192 (1964).
7. Haas, R.J. et al. Congenital immunodeficiency and agranulocytosis (reticular dysgenesia). Acta Paediatr. Scand. 66, 279-283 (1977).
8. Ownby, D.R., Pizzo, S., Blackmon, L., Gall, S.A. & Buckley, R.H. Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. J. Pediatr. 89, 382-387 (1976).
9. DiMauro, S. & Schon, E.A. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348, 2656-2668 (2003).
10. Wallace, D.C. Mouse models for mitochondrial disease. Am. J. Med. Genet. 106, 71-93 (2001).
11. Dzeja, P.P. & Terzic, A. Phosphotransfer networks and cellular energetics. J. Exp. Biol. 206, 2039-2047 (2003).
12. Schlauderer, G.J., Proba, K. & Schulz, G.E. Structure of a mutant adenylate kinase ligated with an ATP-analogue showing domain closure over ATP. J. Mol. Biol. 256, 223-227 (1996).
13. Small, T.N. et al. Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. J. Pediatr. 135, 387-389 (1999).
14. Chandra, D. et al. Intracellular nucleotides act as critical prosurvival factors by binding to cytochrome C and inhibiting apoptosome. Cell 125, 1333-1346 (2006).
15. Riedl, S.J., Li, W., Chao, Y., Schwarzenbacher, R. & Shi, Y. Structure of the apoptotic protease-activating factor 1 bound to ADP. Nature 434, 926-933 (2005).
16. Krishnan, K.J. et al. What causes mitochondrial DNA deletions in human cells? Nat. Genet. 40, 275-279 (2008).
17. Müller, A., Holzmann, K. & Kestler, K. Visualization of genomic aberrations using Affymetrix SNP arrays. Bioinformatics 23, 496-497 (2007).
18. Oxtoby, E. & Jowett, T. Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development. Nucleic Acids Res. 21, 1087-1095 (1993).
19. Schorpp, M. et al. Conserved functions of Ikaros in vertebrate lymphocyte development: genetic evidence for distinct larval and adult phases of T cell development and two lineages of B cells in zebrafish. J. Immunol. 177, 2463-2476 (2006).
20. Friesen, C., Kiess, Y. & Debatin, K.M. A critical role of glutathione in determining apoptosis sensitivity and resistance in leukemia cells. Cell Death Differ. 11, S73-S85 (2004).