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

Tan, Cagman; ÇAĞDAŞ-AYVAZ, Deniz; metin karakas, ayşe; keskin, özlem; Tezcan, İlhan; SANAL, Özden

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

Çağman TAN, (Division of Immunology)

Deniz ÇAĞDAŞ-AYVAZ, (Division of Immunology)

Ayşe METİN, (Dışkapı Children's Hospital)

Özlem KESKİN, (Division of Immunology)

İlhan TEZCAN, (Division of Immunology)

Özden SANAL (Division of Immunology)

Turkish Journal of Pediatrics

7 3

Yıl: 2016 Cilt: 58 Sayı: 4 Sayfa Aralığı: 356 - 361 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

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

Öz:

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 <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-? therapy for severe infectious episodes.

Anahtar Kelime:

Konular: Pediatri

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

TRDizin Dışındaki Atıf Sayıları

OpenCitations: 0

OpenAlex: 0

Crossref: 0

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APA	Tan C, ÇAĞDAŞ-AYVAZ D, metin karakas a, keskin ö, Tezcan İ, SANAL Ö (2016). Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. , 356 - 361.
Chicago	Tan Cagman,ÇAĞDAŞ-AYVAZ Deniz,metin karakas ayşe,keskin özlem,Tezcan İlhan,SANAL Özden Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. (2016): 356 - 361.
MLA	Tan Cagman,ÇAĞDAŞ-AYVAZ Deniz,metin karakas ayşe,keskin özlem,Tezcan İlhan,SANAL Özden Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. , 2016, ss.356 - 361.
AMA	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. . 2016; 356 - 361.
Vancouver	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. . 2016; 356 - 361.
IEEE	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö "Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients." , ss.356 - 361, 2016.
ISNAD	Tan, Cagman vd. "Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients". (2016), 356-361.

APA	Tan C, ÇAĞDAŞ-AYVAZ D, metin karakas a, keskin ö, Tezcan İ, SANAL Ö (2016). Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics, 58(4), 356 - 361.
Chicago	Tan Cagman,ÇAĞDAŞ-AYVAZ Deniz,metin karakas ayşe,keskin özlem,Tezcan İlhan,SANAL Özden Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics 58, no.4 (2016): 356 - 361.
MLA	Tan Cagman,ÇAĞDAŞ-AYVAZ Deniz,metin karakas ayşe,keskin özlem,Tezcan İlhan,SANAL Özden Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics, vol.58, no.4, 2016, ss.356 - 361.
AMA	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics. 2016; 58(4): 356 - 361.
Vancouver	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics. 2016; 58(4): 356 - 361.
IEEE	Tan C,ÇAĞDAŞ-AYVAZ D,metin karakas a,keskin ö,Tezcan İ,SANAL Ö "Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients." Turkish Journal of Pediatrics, 58, ss.356 - 361, 2016.
ISNAD	Tan, Cagman vd. "Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients". Turkish Journal of Pediatrics 58/4 (2016), 356-361.