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

doi:10.1007/s10875-018-0527-6

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Article

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

Journal of clinical immunology - 1 Jul 2018

Rosain Jérémie, Oleaga-Quintas Carmen, Deswarte Caroline, Verdin Hannah, Marot Stéphane, Syridou Garyfallia, Mansouri Mahboubeh, Mahdaviani S Alireza, Venegas-Montoya Edna, Tsolia Maria, Mesdaghi Mehrnaz, Chernyshova Liudmyla, Stepanovskiy Yuriy, Parvaneh Nima, Mansouri Davood, Pedraza-Sánchez Sigifredo, Bondarenko Anastasia, Espinosa-Padilla Sara E, Yamazaki-Nakashimada Marco A, Nieto-Patlán Alejandro, Kerner Gaspard, Lambert Nathalie, Jacques Corinne, Corvilain Emilie, Migaud Mélanie, Grandin Virginie, Herrera María T, Jabot-Hanin Fabienne, Boisson-Dupuis Stéphanie, Picard Capucine, Nitschke Patrick, Puel Anne, Tores Frederic, Abel Laurent, Blancas-Galicia Lizbeth, De Baere Elfride, Bole-Feysot Christine, Casanova Jean-Laurent, Bustamante Jacinta

Abstract excerpt

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...

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PMID: 29995221
DOI: 10.1007/s10875-018-0527-6
PMCID: PMC6329663

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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