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Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) exhibit variable vulnerability to infections by mycobacteria and other intramacrophagic bacteria (e.g., Salmonella and Klebsiella) and fungi (e.g., Histoplasma, Candida, Paracoccidioides, Coccidioides, and Cryptococcus). The hal...

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Detalles Bibliográficos
Autores principales: Louvain de Souza, Thais, de Souza Campos Fernandes, Regina C., Azevedo da Silva, Juliana, Gomes Alves Júnior, Vladimir, Gomes Coelho, Adelia, Souza Faria, Afonso C., Moreira Salomão Simão, Nabia M., Souto Filho, João T., Deswarte, Caroline, Boisson-Dupuis, Stéphanie, Torgerson, Dara, Casanova, Jean-Laurent, Bustamante, Jacinta, Medina-Acosta, Enrique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389975/
https://www.ncbi.nlm.nih.gov/pubmed/28450854
http://dx.doi.org/10.3389/fmicb.2017.00616