Different Penetrance Of Disseminated Infections Caused By Nontuberculous Mycobacteria In Mendelian Susceptibility To Mycobacterial Disease Associated With A Novel Mutation | Zendy

Francisco GiménezSánchez | Zendy; Elena CobosCarrascosa | Zendy; Miguel Sánchez-Forte | Zendy; Miguel MartínezLirola | Zendy; Encarnación LópezRuzafa | Zendy; Rafael Galera Martínez | Zendy; Teresa del Rosal | Zendy; Mónica MartínezGallo | Zendy

Open Access

Different Penetrance Of Disseminated Infections Caused By Nontuberculous Mycobacteria In Mendelian Susceptibility To Mycobacterial Disease Associated With A Novel Mutation

Author(s) -

Francisco GiménezSánchez,

Elena CobosCarrascosa,

Miguel Sánchez-Forte,

Miguel MartínezLirola,

Encarnación LópezRuzafa,

Rafael Galera Martínez,

Teresa del Rosal,

Mónica MartínezGallo

Publication year - 2013

Publication title -

the pediatric infectious disease journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.028

H-Index - 140

eISSN - 1532-0987

pISSN - 0891-3668

DOI - 10.1097/inf.0000000000000099

Subject(s) - nontuberculous mycobacteria , mendelian inheritance , penetrance , disease , mutation , mycobacterium , biology , medicine , tuberculosis , immunology , genetics , gene , pathology , phenotype

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.

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