The WES result demonstrated a compound heterozygosity for two variants in the ITGB2 gene (c.817G>A; p.Gly273Arg and c.314T>C; p.Leu105Pro) consistent with the molecular diagnosis of autosomal recessive leukocyte adhesion deficiency type I (LAD-I). This evidence concerns the gene ITGB2 and leukocyte adhesion deficiency 1.