<unk>  has an autosomal recessive pattern of inheritance. Types of<unk>  include<unk> 1,<unk> 2, and<unk> 3.<unk> 1 is the most common. Type OMIM Gene<unk> 1 ITGB2<unk> 2 or CDG2C SLC35C1<unk> 3 FERMT3 Patients with<unk> 1 have an inherited molecular defect that causes a deficiency of the β-2 integrin subunit, also called CD18, which is encoded by the ITGB2 gene found on chromosome 21. This subunit is involved in the formation of the β-2 integrins (LFA-1, Integrin alphaXbeta2, and Mac-1/CR3) by dimerization with different CD11 subunits. Mutations in the ITGB2 gene lead to absent, reduced, or aberrant CD18 protein expression, causing a lack of expression in the<unk>  membrane of the β-2 integrins. The main function of these proteins is to allow neutrophils to make their way out of the blood stream and into the infected tissues by adhering to different ligands expressed by the endothelium, e.g. ICAM-1. In<unk> -I patients, neutrophils cannot extravasate and fight against bacteria in tissues. The bacteria can then proliferate, leading to symptomatic infection, which can spread unimpeded and cause serious injury to important tissues.
Leukocyte adhesion deficiency
Leukocyte adhesion molecule deficiency
Myeloperoxidase deficiency
Primary immunodeficiency
Neutrophil-specific granule deficiency
MBL deficiency
Combined immunodeficiencies
IgG deficiency