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Journals / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 4

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

Ayşe METİN
Çağman TAN
Özlem KESKİN
İlhan TEZCAN
Özden SANAL
Deniz ÇAĞDAŞ-AYVAZ
Pages
356–361
Publication Date
2022-11-05
DOI
—
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⚡ TL;DR(Too Long; Didn't Read)

In all patients the percentage of activated lymphocytes with surface expression of IL12Rb1 was

📌 3 Key Takeaways

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Objective & Hypothesis:Tan Ç, Çağdaş-Ayvaz D, Metin A, Keskin Ö, Tezcan İ, Sanal Ö.
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Key Findings & Data:Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
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Conclusion & Impact:In all patients the percentage of activated lymphocytes with surface expression of IL12Rb1 was
🔬Design:Research Article
📍Scope:2016 Verileri
⚙️Variables:Domain Parameters

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

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Cite This Article

METİN, A., TAN, Ç., KESKİN, Ö., TEZCAN, İ., SANAL, Ö., ÇAĞDAŞ-AYVAZ, D. (2022). Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 4, 356–361. https://ajindex.com/articles/613172

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