Primer immün yetmezlik hastaliklari, primer ya da dogumsal immün yetmezlik bozukluklari sonucunda gelisen kronik, tekrarlayan özellikte da yineleyen bakteriyel, fungal, protozoal ve viral enfeksiyonlarla seyreden hastaliklar grubudur. Gelismis ülkelerde toplumda olasi görülme orani 1/10.000 ile 1/100.000 arasinda degismektedir (2,3). Akraba evliliginin sik görüldügü ülkemizde tam insidansi bilinmemekle birlikte, özellikle otozomal resesif geçis gösteren immün yetmezliklerin daha sik görülmesi beklenmektedir.Dogumsal hastaliklar genellikle erken çocukluk döneminde baslayip, morbidite ve mortaliteye yol açmaktadir. Bu nedenle erken tani yasam kurtarici olabilecegi gibi, uzun vadede yasam kalitesinin artirilmasini, genetik danisma ya da prenatal taniyi olanakli kilmaktadir.
Kaynaklar
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