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

Kaynakça

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Ayrıntılar

Birincil Dil

Türkçe

Konular

İç Hastalıkları

Bölüm

Araştırma Makalesi

Yazarlar

Serdar Nepesov ^* Bu kişi benim
Türkiye

Yıldız Camcıoğlu Bu kişi benim
Türkiye

Yayımlanma Tarihi

1 Haziran 2020

Gönderilme Tarihi

17 Nisan 2020

Kabul Tarihi

7 Mart 2020

Yayımlandığı Sayı

Yıl 2020 Cilt: 12 Sayı: 3

IZ

https://izlik.org/JA79KP33AY

Kaynak Göster

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

EndNote

Nepesov S, Camcıoğlu Y (01 Haziran 2020) Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Klinik Tıp Pediatri Dergisi 12 3 147–153.

IEEE

[1]S. Nepesov ve Y. Camcıoğlu, “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”, Pediatri, c. 12, sy 3, ss. 147–153, Haz. 2020, [çevrimiçi]. Erişim adresi: https://izlik.org/JA79KP33AY

ISNAD

Nepesov, Serdar - Camcıoğlu, Yıldız. “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”. Klinik Tıp Pediatri Dergisi 12/3 (01 Haziran 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, ve Yıldız Camcıoğlu. “Mikobakteriyel Hastalıklara Mendelyen Duyarlılık”. Klinik Tıp Pediatri Dergisi, c. 12, sy 3, Haziran 2020, ss. 147-53, https://izlik.org/JA79KP33AY.

Vancouver

1.Serdar Nepesov, Yıldız Camcıoğlu. Mikobakteriyel Hastalıklara Mendelyen Duyarlılık. Pediatri [Internet]. 01 Haziran 2020;12(3):147-53. Erişim adresi: https://izlik.org/JA79KP33AY