Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Abstract

Tan Ç, Çağdaş-Ayvaz D, Metin A, Keskin Ö, Tezcan İ, Sanal Ö. Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turk J Pediatr 2016; 58: 356-361.Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular microorganisms. Nine different genetic defects have been defined to cause MSMD and IL-12Rb1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12Rb1 deficiency diagnosed by surface expression of IL-12Rb1 and Sanger's sequencing. Seventeen patients showed classical presentation (infections with BCG, salmonella and candida) while one patient experienced recurrent leishmaniasis. In all patients the percentage of activated lymphocytes with surface expression of IL12Rb1 was