Maternal Gonosomal Mosaicism Causes XIAP Deficiency
Author:
Funder
MEXT/JSPS KAKENHI
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-022-01414-2.pdf
Reference6 articles.
1. Mudde ACA, Booth C, Marsh RA. Evolution of our understanding of XIAP deficiency. Front Pediatr. 2021;9:660520.
2. Rivière JG, Franco-Jarava C, Martínez-Gallo M, et al. Uncovering low-level maternal gonosomal mosaicism in X-linked agammaglobulinemia: implications for genetic counseling. Front Immunol. 2020;11:46.
3. Yang X, Kanegane H, Nishida N, et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol. 2012;32:411–20.
4. Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, et al. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J Allergy Clin Immunol. 2019;143:359–68.
5. Alsina L, González-Roca E, Giner MT, et al. Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. J Allergy Clin Immunol. 2013;132:741–3.
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