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Article

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Journal of clinical immunology - 24 Jan 2024

Garcia-Prat Marina, Batlle-Masó Laura, Parra-Martínez Alba, Franco-Jarava Clara, Martinez-Gallo Mónica, Aguiló-Cucurull Aina, Perurena-Prieto Janire, Castells Neus, Urban Blanca, Dieli-Crimi Romina, Soler-Palacín Pere, Colobran Roger

Abstract excerpt

The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific antibody production, and recurrent infections. The genetics of CVID is complex, and monogenic defects account for only a portion of cases, typically <30%. Other proposed mechanisms include digenic, oligogenic, or polygenic inheritance and...

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PMID: 38265673
DOI: 10.1007/s10875-024-01659-z

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