TY - JOUR
T1 - Different penetrance of disseminated infections caused by nontuberculous Mycobacteria in Mendelian susceptibility to mycobacterial disease associated with a novel mutation
AU - Gimenez-Sanchez, Francisco
AU - Cobos-Carrascosa, Elena
AU - Sanchez-Forte, Miguel
AU - Martinez-Lirola, Miguel
AU - Lopez-Ruzafa, Encarnacion
AU - Galera-Martinez, Rafael
AU - Del Rosal-Babes, Teresa
AU - Martinez-Gallo, Monica
N1 - Copyright:
This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
PY - 2014/3/1
Y1 - 2014/3/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85027935994&partnerID=8YFLogxK
U2 - 10.1097/INF.0000000000000099
DO - 10.1097/INF.0000000000000099
M3 - Article
C2 - 24064560
AN - SCOPUS:85027935994
VL - 33
SP - 328
EP - 330
IS - 3
ER -
