Mikobakteriyel Hastalıklara Mendelyen Duyarlılık

Serdar Nepesov; Yıldız Camcıoğlu

Mikobakteriyel Hastalıklara Mendelyen Duyarlılık

Öz

Mikobakteriyel hastalıklara Mendelyen duyarlılık (MSMD, OMIM 209950), zayıf virulanslı non-tüberküloz mikobakterilere (NTM) ve atenüe Mycobacterium bovis içeren Bacillus Calmette-Guérin (BCG) aşısına duyarlılık gösteren ancak diğer mikroorganizmalara normal immün yanıt veren, rutin immün yetersizlik taramasında hematolojik ve immünolojik incelemeleri normal bulunan ‘immün sistemin doğuştan kusuru’dur. Hastaların klinik belirtileri NTM enfeksiyonu veya BCG aşısı yayılımı veya her ikisinin birlikteliğine göre değişir. Lokal veya yaygın lenfadenopatiler, deri belirtileri, akciğer tutulumu, osteomiyelit, hepatosplenomegali sık görülen klinik bulgulardır. MSMD hastalarında 15 farklı gende (IFNGR1, IFNGR2, STAT1 LOF, JAK1, IRF8, SPPL2A, IL12B, IL12RB1, IL12RB2, IL23R, ISG15, TYK2, RORC, CYBB ve NEMO) mutasyon tanımlanmıştır. Kalıtım şekline, mutant proteinin üretim düzeyine ve yol açtığı biyokimyasal anormalliğe bağlı olarak 30 farklı genetik hastalık tanımlanmıştır. Genetik mutasyonların bir kısmında konak IFN-γ üretemez iken, diğer bir kısmında sitokine immün yanıt bozulmaktadır. Bu hastalar Salmonella gibi makrofaj içine giren birkaçbakteriye ve bazı virüslere de duyarlıdırlar. Dünya üzerinde yaklaşık 1/50 000 kişide MSMD olduğu tahmin edilmektedir.

Anahtar Kelimeler

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Details

Primary Language

Turkish

Subjects

Internal Diseases

Journal Section

Research Article

Authors

Serdar Nepesov ^* This is me
Türkiye

Yıldız Camcıoğlu This is me
Türkiye

Publication Date

June 1, 2020

Submission Date

April 17, 2020

Acceptance Date

March 7, 2020

Published in Issue

Year 2020 Volume: 12 Number: 3

IZ

https://izlik.org/JA79KP33AY

Cite

RIS / Bibtex

APA

Nepesov, S., & Camcıoğlu, Y. (2020). Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Klinik Tıp Pediatri Dergisi, 12(3), 147-153. https://izlik.org/JA79KP33AY

AMA

1.Nepesov S, Camcıoğlu Y. Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Pediatri. 2020;12(3):147-153. https://izlik.org/JA79KP33AY

Chicago

Nepesov, Serdar, and Yıldız Camcıoğlu. 2020. “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”. Klinik Tıp Pediatri Dergisi 12 (3): 147-53. https://izlik.org/JA79KP33AY.

EndNote

Nepesov S, Camcıoğlu Y (June 1, 2020) Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Klinik Tıp Pediatri Dergisi 12 3 147–153.

IEEE

[1]S. Nepesov and Y. Camcıoğlu, “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”, Pediatri, vol. 12, no. 3, pp. 147–153, June 2020, [Online]. Available: https://izlik.org/JA79KP33AY

ISNAD

Nepesov, Serdar - Camcıoğlu, Yıldız. “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”. Klinik Tıp Pediatri Dergisi 12/3 (June 1, 2020): 147-153. https://izlik.org/JA79KP33AY.

JAMA

1.Nepesov S, Camcıoğlu Y. Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Pediatri. 2020;12:147–153.

MLA

Nepesov, Serdar, and Yıldız Camcıoğlu. “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”. Klinik Tıp Pediatri Dergisi, vol. 12, no. 3, June 2020, pp. 147-53, https://izlik.org/JA79KP33AY.

Vancouver

1.Serdar Nepesov, Yıldız Camcıoğlu. Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Pediatri [Internet]. 2020 Jun. 1;12(3):147-53. Available from: https://izlik.org/JA79KP33AY