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

Yıl 2022, Cilt: 44 Sayı: 5, 729 - 733, 29.09.2022
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.

Destekleyen Kurum

Ek kurum desteği yok

Proje Numarası

Proje yok

Teşekkür

Çocuk allerji immunolojı ve tıbbi genetik bölümlerine teşekkür ederiz

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.

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

Yıl 2022, Cilt: 44 Sayı: 5, 729 - 733, 29.09.2022
https://doi.org/10.20515/otd.1022010

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.

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.
Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm OLGU SUNUMLARI / CASE REPORTS
Yazarlar

Yalçın Kara 0000-0003-0569-1106

Seher Tekeli 0000-0002-4167-4760

Mahmut Can Kızıl 0000-0002-6231-4238

Sümeyye Koç Bu kişi benim 0000-0002-1382-2906

Serkan Belkaya Bu kişi benim 0000-0003-4214-382X

Sabiha Sahin 0000-0003-4214-382X

Koray Harmanci 0000-0002-8494-648X

Ömer Kılıç 0000-0003-0168-4080

Ener Dınleyıcı, Md 0000-0002-0339-0134

Proje Numarası Proje yok
Yayımlanma Tarihi 29 Eylül 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 44 Sayı: 5

Kaynak Göster

Vancouver Kara Y, Tekeli S, Kızıl MC, Koç S, Belkaya S, Sahin S, Harmanci K, Kılıç Ö, Dınleyıcı, Md E. BCG Lenfadeniti ile Başvuran Kalıtsal IL-12Rβ1 Eksikliği; Olgu Sunumu. Osmangazi Tıp Dergisi. 2022;44(5):729-33.


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