MYD88 deficiency

Disease Overview

MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics.[9112][9113]

Synonyms

• Pyogenic bacterial infections due to MyD88 deficiency
• Bacterial susceptibility due to TLR signaling pathway deficiency