MonoMAC

MonoMAC is a rare autosomal dominant syndrome combining monocytopenia, B-cell and NK-cell lymphopenia, and susceptibility to mycobacterial, viral, fungal and bacterial opportunistic infections. It is caused by inactivating mutations in the GATA2 gene, which reduce levels of the GATA2 protein needed to maintain blood-forming and lymphatic stem cells, producing progressive immune and blood system dysfunction. Patients face severely compromised immunity with marked vulnerability to infections, particularly mycobacterial disease, human papillomavirus and fungal infection, and the syndrome carries substantial mortality, with about 48 percent of documented patients dying at a median age of 36.5 years; complications include myelodysplasia, malignancies such as cervical and vulvar carcinoma, and autoimmune phenomena. Bone marrow transplantation is currently the only available treatment.