Mycobacterium bovis BCG-itis and Cervical Lymphadenitis due to Salmonella enteritidis in a Patient with Complete Interleukin-12/-23 Receptor [beta]1 Deficiency

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder with predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent, non-tuberculous environmental mycobacteria and poorly virulent salmonellae. In patients with MSMD, mutations have been identified...

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Veröffentlicht in:Infection 2010-04, Vol.38 (2), p.128
Hauptverfasser: van de Vosse, E, Ottenhoff, T H, M, de Paus, R A, Verhard, E M, de Boer, T, van Dissel, J T, Kuijpers, T W
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Sprache:eng
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Zusammenfassung:Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder with predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent, non-tuberculous environmental mycobacteria and poorly virulent salmonellae. In patients with MSMD, mutations have been identified in five genes that encode for the proteins IL-12/IL-23p40, IL-12/ IL-23Rβ1, IFN-R1, IFN-γR2 and STAT1. These proteins play important roles in the type-1 cytokine pathway, which is crucial for human host defence against intracellular pathogens such as mycobacteria and salmonellae. We report a girl with mild Mycobacterium bovis Bacille Calmette-Guérin (BCG) disease and Salmonella enteritidis cervical lymphadenitis. Despite treatment, she has remained a fecal carrier of S. enteritidis for the past 14 years. She was found to have complete IL-12/IL-23Rβ1 deficiency. A homozygous r.518G>C IL12RB1 mutation was identified, leading to a non-functional R173P substitution in the IL-12/IL-23Rβ1 protein. This mutation abrogated IL-12/IL-23Rβ1 cell-surface expression and resulted in complete lack of T cell responsiveness to both IL-12 and IL-23.[PUBLICATION ABSTRACT]
ISSN:0300-8126
1439-0973
DOI:10.1007/s15010-009-9222-0