Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia-Reference-Cited by-同舟云学术

Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia

Published:2015-04-26 Issue:5 Volume:35 Page:512-516
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Hirata Osamu,Okada Satoshi,Tsumura Miyuki,Karakawa Shuhei,Matsumura Itaru,Kimura Yujiro,Maihara Toshiro,Yasunaga Shin’ichiro,Takihara Yoshihiro,Ohara Osamu,Kobayashi Masao

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-015-0165-1.pdf

Reference19 articles.

1. Dale DC, Hammond WP. Cyclic neutropenia: a clinical review. Blood Rev. 1988;2:178–85.

2. Palmer SE, Stephens K, Dale DC. Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet. 1996;66:413–22.

3. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317–22.

4. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433–6.

5. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood. 2007;109:1817–24.

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