Leukocyte adhesion deficiency type1 in Algeria

Abstract

Leukocyte adhesion deficiency type I (LAD-I) is an autosomal recessive disease characterized by impaired leukocyte diapedesis to sites of infection. The disorder is caused by mutations in the ITGB2 (integrin beta-2) gene. Herein, we report the first series of Algerian patients with LAD-I. In this study, we enrolled twelve patients. All suffered from the severe form of the disease, with no significant delay in umbilical cord separation, except for two patients, however omphalitis was present in most cases. The analysis of the spectrum of mutations showed three different homozygous mutations, two were known mutations (missense mutation: c.533C˃T and nonsense mutation: c.562C > T) and one was novel nonsense mutation (c.1401C > A). Thus, the three mutations affect CD18 and are responsible for the severe form of the disease.