β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).
Sign Up to like & getrecommendations! Published in 2020 at "Immunobiology"
DOI: 10.1016/j.imbio.2020.151938
Abstract: Leukocyte adhesion deficiency I (LADI) is an autosomal recessive type of primary immunodeficiency characterized by occurrence of repeated bacterial infections, impaired pus formation and wound healing. Genetic variations in the β-2 integrin subunit encoding gene… read more here.
Keywords: gene itgb2; leukocyte adhesion; gene; adhesion deficiency ... See more keywords
Novel FERMT3 and PTPRQ Mutations Associated with Leukocyte Adhesion Deficiency-III and Sensorineural Hearing Loss
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0041-1733948
Abstract: Leukocyte adhesion deficiency-III (LAD-III) is a rare genetic disease caused by defective integrin activation in hematopoietic cells due to mutations in the FERMT3 gene. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q and… read more here.
Keywords: ptprq mutations; hearing loss; sensorineural hearing; deficiency iii ... See more keywords
Genetic Analysis of 13 Iranian Families With Leukocyte Adhesion Deficiency Type 1
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001221
Abstract: Background and Aim: Leukocyte adhesion deficiency type 1 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene. This gene encodes the CD18 subunit of &bgr;2 integrin leukocyte adhesion cell molecules.… read more here.
Keywords: leukocyte adhesion; adhesion deficiency; adhesion; deficiency type ... See more keywords
Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.12696
Abstract: Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive primary immunodeficiency disorder that is caused by mutations in ITGB2 gene encoding β2 subunit (CD18) of integrins1. Integrins are required for neutrophils adhesion to… read more here.
Keywords: adhesion; adhesion deficiency; primary immunodeficiency; deficiency type ... See more keywords
Impaired Treg-DC interactions contribute to autoimmunity in leukocyte adhesion deficiency type 1
Sign Up to like & getrecommendations! Published in 2022 at "JCI Insight"
DOI: 10.1172/jci.insight.162580
Abstract: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare disease resulting from mutations in the gene encoding for the common β-chain of the β2-integrin family (CD18). The most prominent clinical symptoms are profound leukocytosis and… read more here.
Keywords: treg; autoimmunity; leukocyte adhesion; deficiency type ... See more keywords