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Article

Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.

Journal of clinical immunology - 1 Apr 2023

Inoue Kento, Miyamoto Satoshi, Tomomasa Dan, Adachi Eriko, Azumi Shohei, Horikoshi Yasuo, Ishihara Takashi, Osone Shinya, Kawahara Yuta, Kudo Ko, Kato Zenichiro, Ohnishi Hidenori, Kashimada Kenichi, Imai Kohsuke, Ohara Osamu, van Zelm Menno C, Cowan Morton J, Morio Tomohiro, Kanegane Hirokazu

Abstract excerpt

PURPOSE: Artemis is an exonuclease essential for V(D)J recombination and repair of DNA double-stranded breaks. Pathogenic variants in DCLRE1C encoding Artemis cause T-B-NK+ severe combined immunodeficiency (SCID), and patients with Artemis-deficient SCID (ART-SCID) require definitive therapy with allogeneic hematopoietic cell transplantation (HCT). Here we describe the clinical and genetic characteristics of...

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Identifiers

PMID: 36385359
DOI: 10.1007/s10875-022-01405-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.PMID 36385359Read ↗

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