Open AccessDifferent Penetrance Of Disseminated Infections Caused By Nontuberculous Mycobacteria In Mendelian Susceptibility To Mycobacterial Disease Associated With A Novel Mutation
Author(s) -
Francisco Giménez-Sánchez,
Elena CobosCarrascosa,
Miguel Sánchez-Forte,
Miguel Martínez-Lirola,
Encarnación López-Ruzafa,
Rafael Galera-Martinez,
Teresa del Rosal,
Mónica MartínezGallo
Publication year - 2014
Publication title -
the pediatric infectious disease journal/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.