Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

Nature Genetics

Volumn 13, Issue 3, 1996, Pages 290-295

  Hirschhorn, Rochelle ^a   Yang, Diana Ruixi ^a   Puck, Jennifer M ^b   Huie, Maryann L ^a   Jiang, Chuan Kui ^a   Kurlandsky, Lawrence E ^c  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; CD19 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; DEOXYADENOSINE; DEOXYADENOSINE TRIPHOSPHATE; DNA; IMMUNOGLOBULIN E; MESSENGER RNA; PURINE NUCLEOSIDE PHOSPHORYLASE;

ALLELE; ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MOSAICISM; MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADENOSINE DEAMINASE; ALLELES; B-LYMPHOCYTES; BASE SEQUENCE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0029902033     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0796-290     Document Type: Article

References (28)

1. Hershfield, M.S. & Mitchell, B.S. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. in The Metabolic Basis of Inherited Disease. 7th Edn. (eds Scriver, C., Beaudet, A.L., Sly, W.S. & Valle, D.) 1725-1768 (McGraw Hill, New York, 1995).
2. Hirschhorn, R. Adenosine deaminase deficiency. in Immunodeficiencies. (eds Rosen, F.S. & Seligmann, M.) 177-196 (Harwood Academic Press, London, 1993).
3. Hirschhorn, R. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediat. Res. 33, S35-41 (1993).
4. Hirschhorn, R. Adenosine deaminase deficiency: molecular basis and recent developments. Clin. Immun. Immunopathol. 78, S219-S226 (1995).
5. Shovlin, C.L. et al. A.D.B. Adult presentation of adenosine deaminase deficiency. Lancet 341, 1471 (1993).
6. Hirschhorn, R., Roegner, V., Jenkins, T., Seaman, C., Piomelli, S. & Borowsky, W. Erythrocyte adenosine deaminase deficiency without immunodeficiency: Evidence for an unstable mutant enzyme. J. Clin. Invest. 64, 1130-1139 (1979).
7. Hirschhorn, R., Tzall, S., Ellenbogen, A. & Orkin, S.H. Identification of a point mutation resulting in a heat labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. J. Clin. Invest. 83, 497-501 (1989).
8. Hirschhorn, R. Genetic mosaicism: What Gregor Mendel didn't know (Editorial) J. Clin. Invest. 95, 443-444 (1995).
9. -CID) and spontaneous clinical recovery. Am. J. Hum. Genet. 55, 59-68 (1994).
10. Kurlandsky, L.E., Webb, P. & Hirschhorn, R. Partial adenosine deaminase deficiency in an immunodeficient child. Pediat. Asthma, Allergy Immunol. 7, 51-55 (1993).
11. Santisteban, I. et al. Novel splicing, missense and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease: contribution of genotype to phenotype. J. Clin. Invest. 92, 2291-2302 (1993).
12. Santisteban, I. et al. Four new adenosine deaminase mutations altering a zinc-binding histidine, two conserved alanines and a 5′ splice site. Hum. Mutat. 5, 243-250 (1995).
13. Hirschhorn, R., Tzall, S., Ellenbogen, A., & Eng, F. Hot spot mutations in adenosine deaminase (ADA) deficiency. Proc. Natl Acad. Sci. USA 87, 6171-6175 (1990).
14. Hirschhorn, R. Identification of two new missense mutations (R156C and S291L) in two ADA-SCID patients unusual for response to therapy with partial exchange transfusions. Hum. Mutat. 1, 166-168 (1992).
15. Kvittingen, E.A., Rootwelt, H., Berger, R. & Brandtzaeg, P. Self-induced correction of the genetic defect in tyrosinemia type I. J. Clin. Invest. 94, 1657-1661 (1994).
16. Brox, L., Ng, A., Pollock, E. & Belch. DNA strand breaks induced in human T-lymphocytes by the combination of deoxyadenosine and deoxycoformycin. Cancer Res. 44, 934-937 (1984).
17. Cohen, A. & Thompson, E. DNA repair in nondividing human lymphocytes: inhibition by deoxyadenosine. Cancer Res. 46, 1585-1588 (1986).
18. Kohn, D.B. et al. Selective accumulation of ADA gene-transduced T lymphocytes upon PEG-ADA dosage reduction after gene therapy with transduced CD34+ umbilical cord blood cells (abstract) Blood 86, 295 (1995).
19. Puck, J.M. X-linked immunodeficiencies. in Advances in Human Genetics. Vol. 21 (eds Harris, H. & Hirschhorn, K.) 107-144 (Plenum Press, New York, 1993).
20. Rossiter, B.J.F. & Caskey, C.T. Hypoxanthine-Guanine Phosphoribosyltransfarase deficiency: Lesch-Nyhan syndrome and gout. in The Metabolic Basis of Inherited Disease. 7th Edn. (eds Scriver, C., Beaudel, A.L., Sly, W.S. & Valle, D.) 1679-1706 (McGraw Hill, New York, 1995).
21. Hirschhorn, R., Roegner-Maniscalco, V. & Kuritsky, L. Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients. J. Clin. Invest. 68, 1387-1393 (1981).
22. Hirschhorn, R. et al. Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency. Pediat. Res. 16, 362-369 (1982).
23. Hirschhorn, R., Yang, D.R. & Israni, A.J. An AspBAsn substitution results in the Adenosine Deaminase (ADA) genetic polymorphism (ADA 2 Allozyme); occurrence on different chromosomal backgrounds and apparent intragenic crossover. Annls. Hum. Genet. 53, 1-9 (1994).
24. Tzall, S., Ellenbogen, A., Eng, F. & Hirschhorn, R. Identification and characterization of nine RFLP's at the adenosine deaminase (ADA) locus. Am. J. Hum. Genet. 44, 864-875 (1989).
25. Hirschhorn, R., Chakravarti, V., Puck, J. & Douglas, S.D. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency disease due to adenosine deaminase deficiency. Am. J. Hum. Genet. 49, 878-885 (1991).
26. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766-2770 (1989).
27. Tosato, G. Generation of Epstein-Barr virus (EBV)-immortalized B cell lines. Current Protocols in Immunology Vol. 7. (eds Coligan, J.E., Kruisbeek, A.M., Margulies, D.H., Shevach, E.M. & Strober, W.) 7.22.1-7.22.3 (John Wiley & Sons, New York, 1995).
28. Puck, J.M., Nussbaum, R.L., Smead, D.L. & Conley, M.E. X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am. J. Hum. Genet. 44, 724-730 (1989).