Article
Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.
Frontiers in immunology - 1 Jan 2019
Silva Susana L, Fonseca Mariana, Pereira Marcelo L M, Silva Sara P, Barbosa Rita R, Serra-Caetano Ana, Blanco Elena, Rosmaninho Pedro, Pérez-Andrés Martin, Sousa Ana Berta, Raposo Alexandre A S F, Gama-Carvalho Margarida, Victorino Rui M M, Hammarstrom Lennart, Sousa Ana E
Abstract excerpt
Monozygotic twins provide a unique opportunity to better understand complex genetic diseases and the relative contribution of heritable factors in shaping the immune system throughout life. Common Variable Immunodeficiency Disorders (CVID) are primary antibody defects displaying wide phenotypic and genetic heterogeneity, with monogenic transmission accounting for only a minority of the cases. Here, we report a...
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