IMD21dendritic cell, monocyte, B and NK lymphoid deficiencyDCMLmonocyte-B-natural killer-dendritic cell deficiency syndromeGATA2 deficiencyMonoMACmonocytopenia and mycobacterial infection syndromecombined immunodeficiency with susceptibility to mycobacterial, viral and fungal infectionsmonocytopenia with susceptibility to infections
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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 GATA2 on chromosome 3q21.3.