leukocyte adhesion deficiency 3

Term ID

DOID:0110912

Synonyms

• IADD
• integrin activation deficiency disease
• LAD1 variant
• LAD1V
• LAD3
• leukocyte adhesion deficiency 1 variant
• leukocyte adhesion deficiency type III

Definition

A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (3)

References

• OMIM:612840
• ORDO:99844

Ontology

Human Disease   ( DOID:0110912 )