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

Francisco Gimenez-Sanchez, Elena Cobos-Carrascosa, Miguel Sanchez-Forte, Miguel Martinez-Lirola, Encarnacion Lopez-Ruzafa, Rafael Galera-Martinez, Teresa Del Rosal-Babes, Monica Martinez-Gallo

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)328-330
Number of pages3
JournalPediatric Infectious Disease Journal
Volume33
Issue number3
DOIs
Publication statusPublished - 1 Mar 2014

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