Leukocyte adhesion deficiency type I is caused by a mutation in the common chain of the β2 integrin family CD18. There are three β2 integrins with different α chains but a common β chain, called CD18. Defects in CD18 determine the loss of β2 integrin and the clinical symptoms. Neutrophils are unable to aggregate and do not bind to intercellular adhesion molecules on endhothelial cells. When there is no infection, the neutrophil count is about twice the normal level. LAD I has been described in more than 300 patients worldwide.
Alternative names
LAD1
Lymphocyte function-associated antigen 1 immunodeficiency
LFA1 immunodeficiency
Leukocyte adhesion deficiency type 1, CD18 (integrin beta2)
Rambam-Hasharon syndrome
Classification
- Defects of Phagocyte Function
- Leukocyte adhesion defects
Inheritance
Autosomal recessive
Cross references
Phenotypically related immunodeficiencies
Incidence
Incidence is not known.