Infections in DNA Repair Defects

DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. Consequently, the characteristics of the infections may vary from mild upper respiratory tract infections to severe, opportunistic, and even fatal infections with bacteria, viruses, or fungi. Here, infections in 15 rare and sporadic DNA repair defects that are associated with immunodeficiencies are discussed. Because of the rarity of some of these conditions, limited information is available regarding infectious complications.

Automated summary

DNA repair defects encompass a wide range of conditions with diverse clinical manifestations, including increased cancer risk, accelerated aging, and developmental defects in organs and systems. Some of these disorders can also affect the immune system, leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may result from primary defects in immune cells or other factors, causing a spectrum of infections ranging from mild respiratory tract infections to severe opportunistic and potentially fatal infections with various pathogens. This article discusses infections in 15 rare and sporadic DNA repair defects associated with immunodeficiencies, highlighting the limited information available due to the rarity of these conditions.