immunodeficiency 21

A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in hete

A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3.

Signs and symptoms

• Decreased total monocyte count
• Decreased total B cell count
• Anemia
• Cervical intraepithelial neoplasia
• Megakaryocyte nucleus hypolobulation
• Myelodysplasia
• Decreased total neutrophil count
• Immunodeficiency
• Osteomyelitis
• Reduced total natural killer cell count

Also known as: DCML; GATA2 deficiency; IMD21; MonoMAC; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections