Phagocyte Defects
Gene: ITGB2
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes.
Multiple families reported.Created: 26 Jul 2021, 2:57 a.m. | Last Modified: 26 Jul 2021, 2:57 a.m.
Panel Version: 0.93
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukocyte adhesion deficiency, MIM# 116920
Publications
Gene: itgb2 has been classified as Green List (High Evidence).
Phenotypes for gene: ITGB2 were changed from to Leukocyte adhesion deficiency, MIM# 116920
Publications for gene: ITGB2 were set to
Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ITGB2 was added gene: ITGB2 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ITGB2 was set to Unknown