immunodeficiency 66

Term ID

DOID:0111998

Synonyms

• IMD66

Definition

A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. https://pubmed.ncbi.nlm.nih.gov/26224645/

References

• MIM:618847

Ontology

Human Disease   ( DOID:0111998 )