Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

Nature Medicine

Volumn 6, Issue 3, 2000, Pages 343-345

  Kung, Chun ^a   Pingel, Jeanette T ^a   Heikinheimo, Markku ^a,b   Klemola, Timo ^b   Varkila, Kari ^c   Yoo, Lina I ^a   Vuopala, Katri ^d,f   Poyhonen, Minna ^d,g   Uhari, Matti ^e   Rogers, Martin ^a   Speck, Samuel H ^a   Chatila, Talal ^a   Thomas, Matthew L ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d OULU UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY OF OULU   (Finland)

^f LAPLAND CENTRAL HOSPITAL   (Finland)

^g Vaestoliitto   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CD45 ANTIGEN; IMMUNOGLOBULIN; PHOSPHATASE; TYROSINE;

AGE; ARTICLE; B LYMPHOCYTE; CHILD; COMBINED IMMUNODEFICIENCY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPATHOGENESIS; INFANT; LYMPHOCYTE COUNT; MALE; PERIPHERAL LYMPHOCYTE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; T LYMPHOCYTE;

EID: 0034064779     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/73208     Document Type: Article

References (15)

1. Trowbridge, I.S. & Thomas, M.L. CD45: An emerging role as a protein tyrosine phosphatase required for lymphocyte activation and development. Annu. Rev. Immunol. 12, 85-116 (1994).
2. Weiss, A. & Littman, D.R. Signal transduction by lymphocyte antigen receptors. Cell 76, 263-274 (1994).
3. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin. Exp. Immunol. 118 Suppl 1, 1-28 (1999).
4. Erkeller-Yuksel, F.M. et al. Age-related changes in human blood lymphocyte subpopulations. J. Pediatr. 120, 216-222 (1992).
5. Kishihara, K., et al. Normal B lymphocyte development but impaired T cell maturation in CD45-exon6 protein tyrosine phosphatase-deficient mice. Cell 74, 143-156 (1993).
6. + thymocytes, and in B cell maturation. J. Exp. Med. 183, 1707-1718 (1996).
7. Cyster, J.C. et al. Regulation of B-lymphocyte negative and positive selection by tyrosine phosphatase CD45. Nature 381, 325-328 (1996).
8. + thymocytes. Int. Immunol. 8, 1529-1535 (1996).
9. lck Y505F mutation in CD45-deficient mice rescues thymocyte development. Mol. Cell. Biol. 19, 4200-4208 (1999).
10. Kirburg, J. & Brocker, T. CD45 up-regulation during lymphocyte maturation. Int. Immunol. 8, 1743-1749 (1996).
11. Russell, S.M. et al. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development Science 270, 797-800 (1995).
12. Macchi, P. et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377, 65-68 (1995).
13. Chan, A.C. et al. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264, 1599-1601 (1994).
14. Elder, M.E. et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264, 1596-1599 (1994).
15. Okumura, M., Kung, C., Wong, S., Rodgers, M. & Thomas, M.L. Definition of a family of coronin-related proteins conserved between humans and mice. Close genetic linkage between coronin-2 and CD45 associated protein. DNA Cell Biol. 17, 779-787 (1998).