Phagocyte Defects
Gene: ITGB2

ITGB2 (integrin subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000160255
EnsemblGeneIds (GRCh37): ENSG00000160255
OMIM: 600065, Gene2Phenotype
ITGB2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 26 Jul 2021, 2:57 a.m.
Last Modified: 26 Jul 2021, 2:57 a.m.
Panel version: 0.93

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Leukocyte adhesion deficiency, MIM# 116920

OMIM

600065

Clinvar variants

Variants in ITGB2

Penetrance

None

Publications

Panels with this gene