Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Author:

Tamura Shinobu,Higuchi Kohei,Tamaki Masaharu,Inoue Chizuko,Awazawa Ryoko,Mitsuki Noriko,Nakazawa Yuka,Mishima HiroyukiORCID,Takahashi Kenzo,Kondo Osamu,Imai Kohsuke,Morio Tomohiro,Ohara Osamu,Ogi Tomoo,Furukawa Fukumi,Inoue Masami,Yoshiura Koh-ichiro,Kanazawa Nobuo

Funder

Japan Ministry of Health, Labor and Welfare

Atomic Bomb Disease Institute

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference36 articles.

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2. A DNA-PKcs mutation in a radiosensitive T-B-SCID patient inhibits Artemis activation and nonhomologous end-joining;van der Burg;J. Clin. Invest.,2009

3. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis;Moshous;J. Clin. Invest.,2003

4. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly;Buck;Cell,2006

5. Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification;Difilippantonio;J. Exp. Med.,2008

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