Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
Authors:
- Marina Garcia-PratMarina Garcia-Prat
- Laura Batlle-MasóLBLaura Batlle-Masó
- Alba Parra-MartínezAlba Parra-Martínez
- Clara Franco-JaravaClara Franco-Jarava
- Mónica Martinez-GalloMónica Martinez-Gallo
- Aina Aguiló-CucurullAAAina Aguiló-Cucurull
- Janire Perurena-PrietoJPJanire Perurena-Prieto
- Neus CastellsNCNeus Castells
- Blanca UrbanBUBlanca Urban
- Romina Dieli-CrimiRomina Dieli-Crimi
- Pere Soler-PalacínPere Soler-Palacín
- Roger ColobranRoger Colobran
- 24 January 2024
- journal article
- research article
- Published by Springer Nature in Journal of Clinical Immunology
- Vol. 44 (2) , 1-12
Abstract
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 A), and patient 4 had a hypomorphic variant in IKBKG (p.Glu57Lys) and a heterozygous splice variant in TNFRSF13B (TACI) (c.61+2T>A). Overall, the analysis of our cohort suggests that CVID in a small proportion of females (1.6% in our cohort) is caused by skewed XCI and highly penetrant gene variants on the X-chromosome. Additionally, skewed XCI may contribute to polygenic effects (3.3% in our cohort). These results indicate that skewed XCI may represent another piece in the complex puzzle of CVID genetics.Keywords
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