Mikobakteriyel Hastalıklara Mendelyen Duyarlılık

Yıl 2020, Cilt: 12 Sayı: 3, 147 - 153, 01.06.2020

Serdar Nepesov Yıldız Camcıoğlu

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

Primer immün yetersizlik, Mikobakteriye duyarlık, MSMD genleri

Kaynakça

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