immunodeficiency-centromeric instability-facial anomalies syndrome 3 — Definition

İmmün yetmezlik-sentromerik instabilite-yüz anomalileri sendromu 3; otozomal resesif is a rare immunodeficiency syndrome. The result of mutations in the DNMT3B gene occurs and repetitive infections are characterized by facial dysmorphism (wide forehead, hypertelorism, low ears). Lowness and cellular immunodeficiency occurs in immunoglobulin levels in patients. In addition, the risk of chromosome instability and malignant is also the important characteristics of the syndrome.

The Turkish equivalent of "immunodeficiency-centromeric instability-facial anomalies syndrome 3" is İmmün yetmezlik-sentromerik instabilite-yüz anomalileri sendromu 3.

This term belongs to the Diseases category.