LAD3 deficiency

LAD-III deficiency involves a general defect in integrin activation. Defects in the activation of β1, β2 and β3 integrin subunits have been observed and it seems that this rare syndrome may be due to several defects in molecules involved in integrin activation. In LAD3 deficiency, the definitive diagnosis is established by the presence of defects in the integrin activation process while the CD18 molecule is structurally intact.

Alternative names

LAD III

Leukocyte adhesion deficiency type 3

Classification

  • Defects of phagocyte function
    • Leukocyte adhesion defects

Inheritance

Autosomal recessive

OMIM

#116920 Leukocyte adhesion deficiency

*605577 Ras guanyl nucleotide-releasing protein 2; RASGRP2

Incidence

Incidence is not known.