{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:16:55Z","timestamp":1790864215288,"version":"4.1.0"},"reference-count":25,"publisher":"American Society of Hematology","issue":"9","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 ADAgene 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.<\/jats:p>","DOI":"10.1182\/blood.v97.9.2896","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T12:46:47Z","timestamp":1027774007000},"page":"2896-2899","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":55,"title":["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"],"prefix":"10.1182","volume":"97","author":[{"given":"Tadashi","family":"Ariga","sequence":"first","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Oda","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Kawamura","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Kikuta","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoichiro","family":"Taniuchi","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohnosuke","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kihei","family":"Terada","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisami","family":"Ikeda","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael S.","family":"Hershfield","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiko","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Sakiyama","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021217282723700_B1","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/S0140-6736(72)92345-8","article-title":"Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.","volume":"I","author":"Giblett","year":"1972","journal-title":"Lancet."},{"key":"2020021217282723700_B2","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1172\/JCI116833","article-title":"Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late\/delayed onset of combined immunodeficiency disease. 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