Article
Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.
Human immunology - 1 Feb 2016
Yassaee Vahid Reza, Hashemi-Gorji Feyzollah, Boosaliki Sara, Parvaneh Nima
Abstract excerpt
Leukocyte adhesion deficiency type 1 (LAD1) is an autosomal recessive disorder clinically characterized by severe, recurrent bacterial infections, impaired pus formation and wound healing. It is caused by mutation in the ITGB2 gene, encoding the β2 integrin subunit of the leukocyte adhesion cell molecule. This study aimed to identify disease causing mutations in 19 consanguineous families diagnosed with LAD1....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.