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Blood, 1 May 2001, Vol. 97, No. 9, pp. 2896-2899
BRIEF REPORT
T-cell lines from 2 patients with adenosine deaminase (ADA)
deficiency showed the restoration of ADA activity resulted from the
reversion of an inherited mutation
Tadashi Ariga,
Noriko Oda,
Koji Yamaguchi,
Nobuaki Kawamura,
Hideaki Kikuta,
Shoichiro Taniuchi,
Yohnosuke Kobayashi,
Kihei Terada,
Hisami Ikeda,
Michael S. Hershfield,
Kunihiko Kobayashi, and
Yukio Sakiyama
From the Department of Human Gene Therapy and
Department of Pediatrics, Hokkaido University School of Medicine,
Sapporo, Japan; Department of Pediatrics, Kansai Medical University,
Osaka, Japan; Department of Pediatrics, Kawasaki Medical School,
Kurashiki, Japan; Hokkaido Red Cross Blood Center, Sapporo, Japan; and
Department of Medicine and Biochemistry, Duke University Medical
Center, Durham, NC.
Inherited deficiency of adenosine deaminase (ADA)
results in one of the autosomal recessive forms of severe combined
immunodeficiency. This report discusses 2 patients with ADA deficiency
from different families, in whom a possible reverse mutation had
occurred. The novel mutations were identified in the ADA
gene from the patients, and both their parents were revealed to be
carriers. Unexpectedly, established patient T-cell lines, not B-cell
lines, showed half-normal levels of ADA enzyme activity. Reevaluation
of the mutations in these T-cell lines indicated that one of the
inherited ADA gene mutations was reverted in both patients.
At least one of the patients seemed to possess the revertant cells in
vivo; however, the mutant cells might have overcome the revertant
after receiving ADA enzyme replacement therapy. These findings may have
significant implications regarding the prospects for stem cell
gene therapy for ADA deficiency.
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