leukocyte adhesion deficiency 1

Summary
Synonym
  • LAD1
  • LFA1 immunodeficiency
  • leukocyte adhesion deficiency type I
  • lymphocyte function-associated antigen 1 immunodeficiency
Definition
A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.
Super Class
leukocyte adhesion deficiency
Disease Ontology
DOID:0110910
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3689 ITGB2 integrin subunit beta 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
16414 Itgb2 integrin beta 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05107 Integrin beta-2
Displaying 1 entry
UniProt ID Protein Name Source
Q542I8 Integrin beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025