Article
Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.
BioMed research international - 1 Jan 2022
Bouhouche Ahmed, Tabache Yasmin, Askander Omar, Charoute Hicham, Mesnaoui Nada, Belayachi Lamiae, El Hafidi Naima, Hardizi Houyam, El Fahime Elmostafa, Erreimi Naima, Barakat Abdelhamid, Khattab Mohammed, Seghrouchni Fouad, El Hassani Amine
Abstract excerpt
Leukocyte adhesion deficiency type 1 (LAD1) is a rare autosomal recessive hereditary disorder characterized by recurrent infections, impaired pus formation, delayed wound healing, omphalitis, and delayed separation of the umbilical cord as hallmark features of the disease. It results from mutations in the integrin β2 subunit gene ITGB2, which encodes the integrin beta chain-2 protein CD18. In this study, we aimed...
Topics
- CD18 Antigens
- Humans
- Infant
- Leukocyte-Adhesion Deficiency Syndrome
- Male
- Mutation
- Phenotype