Pediatric Dermatology · 2012 · 17 citations · 7 references
Life SciencesImmunologyInfectious DiseasesImmunology Of Infectious DiseasesImmunopathologyPediatric Infectious DiseasesBacterial ImmunologyBacterial InfectionsBacterial PathogenesisImmune Responses To InfectionImmune-mediated Inflammatory DiseasesInnate Immune ReceptorsCutaneous Leukocytoclastic VasculitisInnate Immune CytokinesInterferon Gamma ProductionInterferon-gamma ResponsesInterleukin-12 SignalingMendelian Susceptibility To InfectionMycobacterial DiseaseSalmonella Infections
Defects in the interleukin 12 (IL-12)/interferon gamma (IFN-γ) pathway result in Mendelian susceptibility to mycobacterial disease (MSMD). IL-12 receptor beta 1 (IL-12Rβ1) deficiency, the most common form of MSMD, is associated with weakly virulent mycobacteria and salmonella. Infections in patients with this deficiency are extraintestinal, or septicemic, recurrent infections with nontyphoid salmonellae. Here we report a case of an IL-12Rβ1 deficiency with cutaneous leukocytoclastic vasculitis due to Salmonella enteritidis.
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Revisiting Human IL-12Rβ1 Deficiency
Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante et al. · Medicine · 2010 · 386 citations · Full text
Elgin G.R. Lichtenauer-Kaligis, Tjitske de Boer, Frank A. W. Verreck et al. · European Journal of Immunology · 2002 · 81 citations · Full text
Esther van de Vosse, Roelof A. de Paus, Jaap T. van Dissel et al. · Human Molecular Genetics · 2005 · 34 citations · Full text
Life Sciences, Genetics, Immunology +12