title: Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
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-12Rβ1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12Rβ1 deficiency diagnosed by surface expression of IL-12Rβ1 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 IL12Rβ1 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-γ therapy for severe infectious episodes.
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: Çağman
authors.initials: Ç
authors.lastname: Tan
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: Deniz
authors.initials: D
authors.lastname: Çağdaş-Ayvaz
authors.affiliation: Dışkapı Children's Hospital, Ankara.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Metin
authors.affiliation: Division of Immunology and Allergy, Department of Pediatrics, Gaziantep University Faculty of Medicine, Gaziantep Turkey.
authors.forename: Özlem
authors.initials: Ö
authors.lastname: Keskin
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: İlhan
authors.initials: İ
authors.lastname: Tezcan
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
authors.forename: Özden
authors.initials: Ö
authors.lastname: Sanal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009169:Mycobacterium tuberculosis / Q000276:immunology*; D053707:Receptors, Interleukin-12 / Q000172:deficiency / Q000235:genetics*; D055815:Young Adult
chemical_list: C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12
keywords: BCG; IL-12Rβ1; IL-12Rβ1 deficiency; MSMD