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Journals / Osmangazi Tıp Dergisi / 2026 / Cilt: 44 Sayı: 5

IL-12Rβ1 Deficiency Presenting with BCG Lymphadenitis: A Case Report

BCG Lenfadeniti ile Başvuran Kalıtsal IL-12Rβ1 Eksikliği; Olgu Sunumu

Yalçın Kara(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-0569-1106
Seher Tekeli(Eskişehir Osmangazi Üniversitesi Tıp Fakültesi)0000-0002-4167-4760
Mahmut Can Kızıl(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-6231-4238
Sümeyye Koç(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-1382-2906
Serkan Belkaya(BILKENT UNIVERSITY)0000-0003-4214-382X
Sabiha Sahin(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ)0000-0003-4214-382X
Koray Harmanci(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-8494-648X
Ömer Kılıç(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-0168-4080
Ener Dınleyıcı, Md(ESKİŞEHİR OSMANGAZİ ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-0339-0134
Pages
729–733
Publication Date
2022-09-29
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We emphasize that MSMD should be investigated in patients who develop local or systemic mycobacterial infections after receiving the BCG vaccine.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Mendelian susceptibility to mycobacterial disease (MSMD) is a primary immunodeficiency disease characterized by a greater propensity for infection development with weakly-virulent mycobacterial strains and various intracellular pathogens including salmonella.
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Key Findings & Data:The pathogenesis of the disease is caused by a decrease in interferon-gamma production or an inadequate response to interferon-gamma release.
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Conclusion & Impact:We emphasize that MSMD should be investigated in patients who develop local or systemic mycobacterial infections after receiving the BCG vaccine.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:BCG · IL-12Rβ1 · lenfadenit

Abstract

Mendelian susceptibility to mycobacterial disease (MSMD) is a primary immunodeficiency disease characterized by a greater propensity for infection development with weakly-virulent mycobacterial strains and various intracellular pathogens including salmonella. After receiving the Bacille-Calmette-Guérin (BCG) vaccine, patients typically present to clinics with local or widespread mycobacterial infections, recurrent moniliasis, and salmonella infections. The pathogenesis of the disease is caused by a decrease in interferon-gamma production or an inadequate response to interferon-gamma release. The most common genetic deficiency in MSMD is interleukin-12 receptor deficiency. In this report we describe the case of an 11-month-old boy presenting with suppurative lymphadenitis after BCG vaccination who was found to have interleukin-12 receptor β1 deficiency by mutation analysis. We emphasize that MSMD should be investigated in patients who develop local or systemic mycobacterial infections after receiving the BCG vaccine.

Özet

Mikobakteri enfeksiyonlarına karşı Mendelyan yatkınlık, zayıf virülan mikobakteri suşları ve Salmonella gibi çeşitli hücre içi patojenlere duyarlılık ile karakterize bir primer immün yetmezlik hastalığıdır. Hastalar genellikle Bacille Calmette-Guerin aşısı sonrası gelişen lokal veya yaygın mikobakteri infeksiyonları, tekrarlayan moniliazis ve salmonella infeksiyonları ile kliniklere başvururlar. Hastalığın patogenezinden azalmış interferon gama üretimi yada interferon gamaya yetersiz yanıt sorumludur. İnterlökin-12 reseptör β1 eksikliği mikobakteri enfeksiyonlarına karşı Mendelyan yatkınlıkta en sık görülen genetik eksikliktir. Burada Bacille Calmette-Guerin aşısı sonrası süpüratif lenfadenit gelişen ve mutasyon analizi ile interlökin-12 reseptör β1 defekti saptanan 11 aylık bir olgu sunulmaktadır. Bacille Calmette-Guerin aşısı sonrası gelişen lokal veya sistemik mikobakteri infeksiyonlarında IL-12 reseptör β1 eksikliği göz önünde bulundurulmalıdır.

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Cite This Article

Kara, Y., Tekeli, S., Kızıl, M. C., Koç, S., Belkaya, S., Sahin, S., Harmanci, K., Kılıç, Ö., Dınleyıcı, E., Md, M. (2022). IL-12Rβ1 Deficiency Presenting with BCG Lymphadenitis: A Case Report. Osmangazi Tıp Dergisi, Cilt: 44 Sayı: 5, 729–733. https://doi.org/10.20515/otd.1022010

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