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

Yıl 2022, Cilt: 44 Sayı: 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

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

Destekleyen Kurum

Ek kurum desteği yok

Proje Numarası

Proje yok

Teşekkür

Çocuk allerji immunolojı ve tıbbi genetik bölümlerine teşekkür ederiz

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

Proje Numarası

Proje yok

Kaynakça

• 1. Alcais A, Abel L, Casanova JL. Human genetics of infectious diseases: between proof of principle and paradigm. J ClinInvest 2009;119:2506-14.
• 2. de Beaucoudrey L, Samarina A, Bustamante J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010;89:381-402.
• 3. Bustamante J, Boisson-Dupuis S, Abel L, et al. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol 2014;26(6):454–70.
• 4. Okada S, Markle JG, Deenick EK, et al. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science 2015; 349 (6248): 606-13.
• 5. Kreins AY, Ciancanelli MJ, Okada S, et al. Human TYK2 defciency: Mycobacterial and viral infections with out hyper-IgE syndrome. J Exp Med 2015; 212 (10): 1641–62.
• 6. Aytekin C, Dogu F, Tuygun N, et al. Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infantwith a new mutation leading to interleukin-12 receptor beta-1 deficiency. J Investig Allergol Clin Immunol 2011;21:401-4.
• 7. Ramirez-AlejoN, Santos-Argumedo L. Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella. J Interferon Cytokine Res 2014;34(5):307-17.
• 8. van de Vosse E, Ottenhoff TH, de Paus RA, et al. Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta 1 deficiency. Infection 2010;38:128-30.
• 9. Tanir G, Dogu F, Tuygun N, et al. Complete deficiency of the IL-12 receptor β1 chain: three unrelated Turkish children with unusual clinical features. Eur J Pediatr 2006; 165:415-7.
• 10. Çavuşoğlu C, Akıncı P, Söyler İ, et al.Yaygın Mycobacterium bovis BCG infeksiyonunun laboratuvar tanısı. İnfeksiyon Derg 2007; 21(1): 39-44.
• 11. Tan Ç, Çağdaş-Ayvaz D, Metin A, et al. Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients. Turk J Pediatr 2016;58(4):356-61.
• 12. Sanal O, Turkkani G, Gumruk F, et al. A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis. Pediatr Infect Dis J 2007; 26:366–8.
• 13. Vinh DC, Schwartz B, Hsu AP, et al. Interleukin-12 receptor b1 deficiency predisposing to disseminated coccidioidomycosis. Clin Infect Dis2011;52:99-102.
• 14. Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med 2003;197(4):527-35.
• 15. Tan CS, Ayvaz DC, Tezcan I, et al. Akım Sitometri ile IL- 12Rs1 Ekspresyon analizinin IL12Rs1 eksikliğinin tanısındaki rolu. Turk J Immunol 2013;1:1-4.
• 16. Hatipoglu N, Güvenç BH, Deswarte C, et al. Inherited IL-12Rβ1 deficiency in a child with BCG adenitis and oral candidiasis: a case report. Pediatrics 2017;140(5):e20161668.