Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
About this item
Full title
Author / Creator
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 and Kanegane, Hirokazu
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
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 hematopoie...
Alternative Titles
Full title
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2888023508
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2888023508
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-022-01405-3
