A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

@article{Rosain2018AVO,
  title={A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.},
  author={J{\'e}r{\'e}mie Rosain and Carmen Oleaga-Quintas and Caroline Deswarte and Hannah Verdin and St{\'e}phane Marot and Garyfallia Syridou and Mahboubeh Mansouri and Seyed Alireza Mahdaviani and Edna Venegas-Montoya and Maria N. Tsolia and Mehrnaz Mesdaghi and Liudmyla I. Chernyshova and Yuriy Stepanovskiy and Nima Parvaneh and Davood Mansouri and Sigifredo Pedraza-S{\'a}nchez and Anastasia Bondarenko and Sara Elva Espinosa-Padilla and Marco Yamazaki-Nakashimada and Alejandro Nieto-Patl{\'a}n and Gaspard Kerner and Nathalie C. Lambert and Corinne Jacques and Emilie Corvilain and M{\'e}lanie Migaud and Virginie Grandin and Mar{\'i}a Teresa Herrera and Fabienne Jabot-Hanin and St{\'e}phanie Boisson-Dupuis and Capucine Picard and Patrick Linsel Nitschke and Anne Puel and Fr{\'e}d{\'e}ric Tores and Laurent Abel and Lizbeth Blancas-Galicia and Elfride De Baere and Christine B{\^o}le-Feysot and Jean Casanova and Jacinta Bustamante},
  journal={Journal of clinical immunology},
  year={2018}
}
PURPOSE Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions found in the heterozygous or homozygous state. We searched for novel families with IL-12Rβ1… CONTINUE READING