Published in

American Society of Hematology, Blood Advances, 23(1), p. 2083-2087, 2017

DOI: 10.1182/bloodadvances.2017010926

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Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Key Points CDH17 is expressed in human thymic epithelial cells. CDH17 mutations may be a rare cause of leaky severe combined immune deficiency that can be corrected by HSCT.