Different penetrance of disseminated infections caused by nontuberculous Mycobacteria in Mendelian susceptibility to mycobacterial disease associated with a novel mutation

Autor:	Francisco, Gimenez-Sanchez, Elena, Cobos-Carrascosa, Miguel, Sanchez-Forte, Miguel, Martinez-Lirola, Encarnacion, Lopez-Ruzafa, Rafael, Galera-Martinez, Teresa, Del Rosal, Teresa, Del Rosal-Babes, Monica, Martinez-Gallo
Rok vydání:	2013
Předmět:	Microbiology (medical) Antitubercular Agents Mycobacterium Infections Nontuberculous Penetrance Genetic Condition symbols.namesake Medicine Humans Child Frameshift Mutation Genetics biology business.industry Receptors Interleukin-12 Nontuberculous Mycobacteria Mycobacterial disease biology.organism_classification Infectious Diseases Child Preschool Pediatrics Perinatology and Child Health New mutation Host-Pathogen Interactions Mendelian inheritance symbols Nontuberculous mycobacteria Female business Novel mutation
Zdroj:	The Pediatric infectious disease journal. 33(3)
ISSN:	1532-0987
Popis:	Deficiency in the interleukin12/INFgamma pathway is a genetic condition that predisposes to some infections, including nontuberculous mycobacteria infection and extraintestinal salmonellosis. We report 2 cases in sisters who were diagnosed with a genetic defect caused by a new mutation in Interleukin-12 receptor β1 chain (IL12Rβ1) leading to different clinical presentations and responses to therapy.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::324d1c335eb360c26fa4179e5afd3579 https://pubmed.ncbi.nlm.nih.gov/24064560 Zobrazit plný text záznamu