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

Öz

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.

Anahtar Kelimeler

• IL-12Rβ1 deficiency
• BCG lymphadenitis
• mycobacterium

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

Öz

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.

Anahtar Kelimeler

• BCG
• IL-12Rβ1
• lenfadenit
• mikobakter

Kaynakça

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