article_metadata: Thais Louvain de Souza Regina C de Souza Campos Fernandes Juliana Azevedo da Silva Vladimir Gomes Alves Júnior Adelia Gomes Coelho Afonso C Souza Faria Nabia M Moreira Salomão Simão João T Souto Filho Caroline Deswarte Stéphanie Boisson-Dupuis Dara Torgerson Jean-Laurent Casanova Jacinta Bustamante Enrique Medina-Acosta
article_metadata: 10.3389/fmicb.2017.00616
article_metadata: Front Microbiol
article_metadata: 2017 Apr 13;8:616.
article_metadata: ifn-γ il-12rβ1 deficiency mendelian susceptibility to mycobacterial diseases founder stop-gain mutation impaired receptor signal peptide
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/28450854/
article_metadata: Case Reports
article_metadata: PMC5389975
article_metadata: 28450854
article_metadata: Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
article_metadata: 2017