A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis-Reference-Cited by-同舟云学术

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A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis

Published:2022-02-14 Issue:4 Volume:18 Page:294-299
ISSN:1708-8569
Container-title:World Journal of Pediatrics
language:en
Short-container-title:World J Pediatr

Author:

Ruan Yu,Zhao Qin,Liu Qing,Zhao Hong-Yi,Zhang Zhi-Yong,Ding Yuan,Zhao Xiao-Dong

Funder

National Natural Science Foundation of China

Public Welfare Scientific Research Project of China

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s12519-021-00503-3.pdf

Reference18 articles.

1. Kutukculer N, Gulez N, Karaca NE, Aksu G, Berdeli A. Novel mutations and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. Ital J Pediatr. 2012;38:8.

2. Niehues T, Perez-Becker R, Schuetz C. More than just SCID–the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2. Clin Immunol. 2010;135:183–92.

3. Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016;16:234–46.

4. Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358:2030–8.

5. De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, et al. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010;116:1263–71.

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