Different penetrance of disseminated infections caused by nontuberculous Mycobacteria in Mendelian susceptibility to mycobacterial disease associated with a novel mutation.
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.
From the *Department of Pediatrics, †Department of Microbiology, Hospital Torrecardenas, Almeria; ‡Department of Pediatrics, Hospital infantil La Paz, Madrid; and §Department of Immunology, Hospital Vall d´Hebron, Barcelona, Spain.
Francisco
F
Gimenez-Sanchez
Elena
E
Cobos-Carrascosa
Miguel
M
Sanchez-Forte
Miguel
M
Martinez-Lirola
Encarnacion
E
Lopez-Ruzafa
Rafael
R
Galera-Martinez
Teresa
T
Del Rosal
Teresa
T
Del Rosal-Babes
Monica
M
Martinez-Gallo
D000995:Antitubercular Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D054884:Host-Pathogen Interactions / Q000235:genetics; D006801:Humans; D009165:Mycobacterium Infections, Nontuberculous / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology*; D009170:Nontuberculous Mycobacteria; D019683:Penetrance; D053707:Receptors, Interleukin-12 / Q000235:genetics
D000995:Antitubercular Agents; C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12