Research Article


DOI :10.26650/JARHS2022-1119899   IUP :10.26650/JARHS2022-1119899    Full Text (PDF)

GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE

Serdar NepesovSinem FırtınaFatma Deniz AygünBegüm IşıkgilYıldız ÇamcıoğluAyça KıykımEsra Özek YücelYasemin Kendir DemirkolAkif Ayaz

Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The clinical symptoms have a broad spectrum, from localized to disseminated infections. Materials and Methods: Herein, we performed whole-exome sequencing (WES) on 13 patients with MSMD phenotype. All variants were confirmed by Sanger sequencing. The mean age was 8.41 years (min 3 – max 14 years), and the mean age of symptom onset was 4.6 years in our cohort. Results: We found previously identified IFNGR1 (n=1), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1), and CYBB (n=1) gene variants in nine patients. Our patients mostly suffered from lymphadenitis (61.5%), osteomyelitis (38%), and miliary tuberculosis (31%). All patients except one had had the BCG vaccination. Two patients developed BCGitis after vaccination. Three patients suffered from disseminated BCG infection (BCGosis). Conclusion: Our findings show the importance of molecular diagnosis in patients with severe infections as an approach for understanding the genetic basis of infectious diseases and deciding on treatment options. The deficiency of IFN-mediated immunity genes plays a crucial role in the pathogenesis of MSMD and must be considered in pediatric patients with BCGitis.

DOI :10.26650/JARHS2022-1119899   IUP :10.26650/JARHS2022-1119899    Full Text (PDF)

MİKOBAKTERİYEL HASTALIKLARA MENDEL DUYARLILIĞI HASTALARININ GENETİK VE KLİNİK PROFİLİ; TEK MERKEZ DENEYİMİ

Serdar NepesovSinem FırtınaFatma Deniz AygünBegüm IşıkgilYıldız ÇamcıoğluAyça KıykımEsra Özek YücelYasemin Kendir DemirkolAkif Ayaz

Amaç: Mikobakteriyel hastalığa (MSMD) Mendel duyarlılığı, Bacille Calmette-Guérin (BCG) aşısı veya tüberküloz dışı mikobakteriyel enfeksiyonlarla gelişen primer immün yetmezliklerin bir alt grubudur. Klinik semptomlar, lokalize enfeksiyondan yayılmış enfeksiyona kadar geniş bir spektruma sahiptir. Gereç ve Yöntem: Bu çalışmada; MSMD fenotipli 13 hastada tüm ekzom dizileme (WES) yaptık. Tüm varyantlar Sanger dizileme ile doğrulandı. Bizim kohortumuzda ortalama yaş 8.41 yıl (en az 3 – en fazla 14 yıl) ve ortalama semptom başlangıç yaşı 4.6 idi. Bulgular: Dokuz hastada; IFNGR1 (n=2), IFNGR2 (n=1), TYK2 (n=1), IL12RB1 (n=1) ve CYBB (n=1) gen varyantları bulduk. Hastalarımızda en çok lenfadenit (%61,5), osteomiyelit (%38) ve miliyer tüberküloz (%31) mevcuttu. Biri hariç tüm hastalara BCG aşısı yapıldı. İki hastada aşılamadan sonra BCGitis gelişti. Üç hasta, yayılmış BCG enfeksiyonundan (BCGosis) muzdaripti. Sonuç: Bulgularımız, enfeksiyon hastalıklarının genetik temelinin anlaşılmasında ve tedavi seçeneklerine karar verilmesinde bir yaklaşım olarak ağır enfeksiyonlu hastalarda moleküler tanının önemini göstermektedir. IFN aracılı bağışıklık genlerinin eksikliği, MSMD’nin patogenezinde çok önemli bir rol oynar ve BCGitis’li pediatrik hastalarda düşünülmelidir.


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APA

Nepesov, S., Fırtına, S., Aygün, F.D., Işıkgil, B., Çamcıoğlu, Y., Kıykım, A., Özek Yücel, E., Kendir Demirkol, Y., & Ayaz, A. (2022). GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE. Journal of Advanced Research in Health Sciences, 5(3), 140-146. https://doi.org/10.26650/JARHS2022-1119899


AMA

Nepesov S, Fırtına S, Aygün F D, Işıkgil B, Çamcıoğlu Y, Kıykım A, Özek Yücel E, Kendir Demirkol Y, Ayaz A. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE. Journal of Advanced Research in Health Sciences. 2022;5(3):140-146. https://doi.org/10.26650/JARHS2022-1119899


ABNT

Nepesov, S.; Fırtına, S.; Aygün, F.D.; Işıkgil, B.; Çamcıoğlu, Y.; Kıykım, A.; Özek Yücel, E.; Kendir Demirkol, Y.; Ayaz, A. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE. Journal of Advanced Research in Health Sciences, [Publisher Location], v. 5, n. 3, p. 140-146, 2022.


Chicago: Author-Date Style

Nepesov, Serdar, and Sinem Fırtına and Fatma Deniz Aygün and Begüm Işıkgil and Yıldız Çamcıoğlu and Ayça Kıykım and Esra Özek Yücel and Yasemin Kendir Demirkol and Akif Ayaz. 2022. “GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE.” Journal of Advanced Research in Health Sciences 5, no. 3: 140-146. https://doi.org/10.26650/JARHS2022-1119899


Chicago: Humanities Style

Nepesov, Serdar, and Sinem Fırtına and Fatma Deniz Aygün and Begüm Işıkgil and Yıldız Çamcıoğlu and Ayça Kıykım and Esra Özek Yücel and Yasemin Kendir Demirkol and Akif Ayaz. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE.” Journal of Advanced Research in Health Sciences 5, no. 3 (Dec. 2022): 140-146. https://doi.org/10.26650/JARHS2022-1119899


Harvard: Australian Style

Nepesov, S & Fırtına, S & Aygün, FD & Işıkgil, B & Çamcıoğlu, Y & Kıykım, A & Özek Yücel, E & Kendir Demirkol, Y & Ayaz, A 2022, 'GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE', Journal of Advanced Research in Health Sciences, vol. 5, no. 3, pp. 140-146, viewed 4 Dec. 2022, https://doi.org/10.26650/JARHS2022-1119899


Harvard: Author-Date Style

Nepesov, S. and Fırtına, S. and Aygün, F.D. and Işıkgil, B. and Çamcıoğlu, Y. and Kıykım, A. and Özek Yücel, E. and Kendir Demirkol, Y. and Ayaz, A. (2022) ‘GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE’, Journal of Advanced Research in Health Sciences, 5(3), pp. 140-146. https://doi.org/10.26650/JARHS2022-1119899 (4 Dec. 2022).


MLA

Nepesov, Serdar, and Sinem Fırtına and Fatma Deniz Aygün and Begüm Işıkgil and Yıldız Çamcıoğlu and Ayça Kıykım and Esra Özek Yücel and Yasemin Kendir Demirkol and Akif Ayaz. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE.” Journal of Advanced Research in Health Sciences, vol. 5, no. 3, 2022, pp. 140-146. [Database Container], https://doi.org/10.26650/JARHS2022-1119899


Vancouver

Nepesov S, Fırtına S, Aygün FD, Işıkgil B, Çamcıoğlu Y, Kıykım A, Özek Yücel E, Kendir Demirkol Y, Ayaz A. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE. Journal of Advanced Research in Health Sciences [Internet]. 4 Dec. 2022 [cited 4 Dec. 2022];5(3):140-146. Available from: https://doi.org/10.26650/JARHS2022-1119899 doi: 10.26650/JARHS2022-1119899


ISNAD

Nepesov, Serdar - Fırtına, Sinem - Aygün, FatmaDeniz - Işıkgil, Begüm - Çamcıoğlu, Yıldız - Kıykım, Ayça - Özek Yücel, Esra - Kendir Demirkol, Yasemin - Ayaz, Akif. GENETIC AND CLINICAL PROFILING OF MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE PATIENTS; SINGLE CENTER EXPERIENCE”. Journal of Advanced Research in Health Sciences 5/3 (Dec. 2022): 140-146. https://doi.org/10.26650/JARHS2022-1119899



TIMELINE


Submitted03.06.2022
Accepted10.08.2022
Published Online25.08.2022

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