Clinical and Immunological Characterization of ICF Syndrome in Japan-Reference-Cited by-同舟云学术

Clinical and Immunological Characterization of ICF Syndrome in Japan

Published:2018-10-23 Issue:8 Volume:38 Page:927-937
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Kamae Chikako,Imai Kohsuke,Kato Tamaki,Okano Tsubasa,Honma Kenichi,Nakagawa Noriko,Yeh Tzu-Wen,Noguchi Emiko,Ohara Akira,Shigemura Tomonari,Takahashi Hiroshi,Takakura Shunichi,Hayashi Masatoshi,Honma Aoi,Watanabe Seiichi,Shigemori Tomoko,Ohara Osamu,Sasaki Hiroyuki,Kubota Takeo,Morio Tomohiro,Kanegane Hirokazu,Nonoyama Shigeaki

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/article/10.1007/s10875-018-0559-y/fulltext.html

Reference22 articles.

1. Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis. 2006;1:2.

2. Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, et al. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008;45:93–9.

3. Weemaes CM, van Tol MJ, Wang J, et al. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013;21:1219–25.

4. Xu GL, Bestor TH, Bourc’his D, Hsieh CL, Tommerup N, Bugge M, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187–91.

5. Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CMR, et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A. 1999;96:14412–7.

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