Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and few or no circulating B cells. XLA is caused by...

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Bibliographic Details
Main Authors: Jacques G. Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Pere Soler-Palacín, Roger Colobran
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Immunology
Subjects:
X-linked agammaglobulinemia (XLA)
Bruton agammaglobulinemia
gonosomal mosaicism
genetic counseling
BTK mutation
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2020.00046/full

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