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

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.
Authors	Francisco Gimenez-Sanchez, Elena Cobos-Carrascosa, Miguel Sanchez-Forte, Miguel Martinez-Lirola, Encarnacion Lopez-Ruzafa, Rafael Galera-Martinez, Teresa Del Rosal, Monica Martinez-Gallo
Journal	The Pediatric infectious disease journal (Pediatr Infect Dis J) Vol. 33 Issue 3 Pg. 328-30 (Mar 2014) ISSN: 1532-0987 [Electronic] United States
PMID	24064560 (Publication Type: Case Reports, Journal Article)
Chemical References	Antitubercular Agents IL12RB1 protein, human Receptors, Interleukin-12
Topics	Antitubercular Agents (therapeutic use) Child Child, Preschool Female Frameshift Mutation (genetics) Host-Pathogen Interactions (genetics) Humans Mycobacterium Infections, Nontuberculous (drug therapy, genetics, immunology, physiopathology) Nontuberculous Mycobacteria Penetrance Receptors, Interleukin-12 (genetics)

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