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

Year 2022, Volume: 44 Issue: 5, 729 - 733, 29.09.2022

Yalçın Kara Seher Tekeli Mahmut Can Kızıl Sümeyye Koç Serkan Belkaya Sabiha Sahin Koray Harmanci Ömer Kılıç Ener Dınleyıcı, Md

https://doi.org/10.20515/otd.1022010

Abstract

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.

Keywords

BCG, IL-12Rβ1, lenfadenit, mikobakter

Supporting Institution

Ek kurum desteği yok

Project Number

Proje yok

Thanks

Çocuk allerji immunolojı ve tıbbi genetik bölümlerine teşekkür ederiz

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

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.

Keywords

IL-12Rβ1 deficiency, BCG lymphadenitis, mycobacterium

Project Number

Proje yok

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