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.

Blood
T ArigaY Sakiyama

Abstract

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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Citations

Mar 27, 2012·International Journal of Hematology·Hideyuki NakaokaToshio Miyawaki
Sep 23, 2003·Current Opinion in Immunology·Michael S Hershfield
Oct 22, 2003·Journal of Medical Genetics·R Hirschhorn
Aug 3, 2005·The Journal of Clinical Investigation·Oumeya AdjaliDavid Klatzmann
Nov 4, 2008·Current Opinion in Allergy and Clinical Immunology·Taizo Wada, Fabio Candotti
Jan 15, 2016·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Jinqiu JiangXiaodong Zhao
Oct 28, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Ping LiuAndrew M Scharenberg
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Mar 1, 2012·Allergology International : Official Journal of the Japanese Society of Allergology·Tadashi Ariga
Nov 27, 2004·Molecular Therapy : the Journal of the American Society of Gene Therapy·Francesca FicaraAlessandro Aiuti
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Jun 13, 2019·Nature Reviews. Genetics·Patrick RevyAlain Fischer
Mar 18, 2011·British Journal of Haematology·Yuka OkuraTadashi Ariga
Feb 19, 2020·Human Genetics·Conor Gruber, Dusan Bogunovic
Feb 13, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·T ArigaY Sakiyama
Sep 13, 2019·The Journal of Allergy and Clinical Immunology·Marie PouzollesValérie S Zimmermann
Jul 15, 2021·British Journal of Haematology·Andrew D Hughes, Peter Kurre

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