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
10.3389/fmicb.2017.00616
Front Microbiol
2017 Apr 13;8:616.
ifn-γ il-12rβ1 deficiency mendelian susceptibility to mycobacterial diseases founder stop-gain mutation impaired receptor signal peptide
CC BY
https://pubmed.ncbi.nlm.nih.gov/28450854/
Case Reports
PMC5389975
28450854
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
2017