Akademik Veri Yönetim Sistemi
PEDIATRICS, cilt.140, sa.5, 2017 (SCI-Expanded)
Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guerin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent Mycobacteria and Salmonella and also predisposition to chronic mucocutaneous candidiasis. Interleukin 12 receptor beta 1 ( IL-12R beta 1) deficiency is the most common disease of Mendelian susceptibility to mycobacterial disease, and to date only 50 IL-12R beta 1 deficient patients with clinical signs of chronic mucocutaneous candidiasis have been reported. We report a 2.5-year-old daughter of consanguineous parents with both regional bacille Calmette-Guerin lymphadenitis and recurrent oral candidiasis carrying biallelic R175W mutation in the IL12R beta 1 gene, resulting in complete loss of expression of IL-12R beta 1. To our knowledge, this is the first report of bacille Calmette-Guerin lymphadenitis with concurrent oral candidiasis displaying such a mutation. New mutations and wide clinical diversities are the indisputable fact of populations with a high rate of consanguineous marriages.