Search Ontology:
Human Disease

immunodeficiency 21

Term ID
DOID:0111947
Synonyms
  • combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
  • DCML
  • dendritic cell, monocyte, B and NK lymphoid deficiency
  • GATA2 deficiency
  • IMD21
  • monocyte-B-natural killer-dendritic cell deficiency syndrome
  • monocytopenia and mycobacterial infection syndrome
  • monocytopenia with susceptibility to infections
  • MonoMAC
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0111947 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models