Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-08-2011
Symbol LAD1
Location 21q22.3
Name leukocyte adhesion deficiency, type I
Other name(s) lymphocyte function-associated antigen 1 immunodeficiency
Corresponding gene ITGB2
Other symbol(s) LAD-1, ITGB2, LAD
Main clinical features
  • bacterial, recurrent, severe life-threatening infections, chronic neutrophilia, and impaired wound healing associated with gingivoperiodontitis and lack of pus formation
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name ITGB2
    Remark(s)