Clinical and genetic features of IL12Rβ1 deficiency: Single center experience of 18 patients


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TAN Ç., Cagdas-Ayvaz D. N. , Metin A., Keskin O., Tezcan I., Sanal O.

Turkish Journal of Pediatrics, vol.58, no.4, pp.356-361, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.24953/turkjped.2016.04.002
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.356-361
  • Keywords: IL-12R beta 1, MSMD, BCG, IL-12R beta 1 deficiency, RECEPTOR BETA-1 DEFICIENCY, CALMETTE-GUERIN INFECTION, IFN-GAMMA IMMUNITY, SALMONELLA INFECTIONS, MYCOBACTERIAL DISEASE, IL-12/IFN-GAMMA AXIS, SUSCEPTIBILITY
  • Hacettepe University Affiliated: Yes

Abstract

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-12R beta 1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12R beta 1 deficiency diagnosed by surface expression of IL-12R beta 1 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 IL12R beta 1 was <1% indicating that it is an effective method for the screening of these patients. Three recurrent mutations were responsible for 85% of our families. Prognosis was good in patients, in whom specific antimicrobial therapy was given before dissemination occurs, as well as prophylactic antimicrobial treatment when needed and IFN-gamma therapy for severe infectious episodes.