Identification of the causative mutation in the ITGB2 gene in a LAD1 patient by whole exome sequencing

Leukocyte adhesion deficiency type 1 (LAD1) is a rare congenital immunodeficiency disease. The cause of disease determined to be the mutations in ITGB2 gene that codes for CD18, beta chain beta-2 integrins, leads decreased expression or functioning CD18. This severe impairment leukocyte vascular wall and migration sites infection inflammation. LAD1 has also been associated with inhibition interleukin-23 interleukin-17 resulting hyperinflammatory chronic Patients typically present early infancy recurrent, life threatening infections are frequently fatal before 2 years age without hematopoietic stem cell transplant (HSCT). However, difficult diagnose many patients die at young despite intensive antibiotic therapy. Accurate diagnosis requires detailed clinical information (delayed umbilical cord loss, periodontitis, delayed wound healing sores, skin abscesses, recurrent infection), confirmation absence integrins by flow cytometric analysis. A better understanding molecular characteristics this needed raise awareness definitive infants LAD1. To diagnosis, whole exome sequencing Sanger were performed an eighteen-month-old boy leukocytosis, infections, healing, hepatosplenomegaly acquired cytomegalovirus infection. Two variants: One previously reported mutation (c.533C>T, p.Pro178Leu) one novel variant (c.59-1G>A), detected. These results can used genetic counseling, as well prenatal patients.