Details of Disease

General Information of Disease (ID: DISEJ9VG)

Disease Name Leukocyte adhesion deficiency
Synonyms LAD; congenital leukocyte adherence deficiency
Definition Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISXLK81: Functional neutrophil defect
DISEJ9VG: Leukocyte adhesion deficiency
Disease Identifiers
MONDO ID
MONDO_0017570
UMLS CUI
C0272187
MedGen ID
124419
Orphanet ID
2968

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITGAM TTB69FJ Limited Biomarker [1]
ITGAL TT48WR6 Strong Biomarker [2]
ITGB2 TTIJWR7 Strong Genetic Variation [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARHGEF1 OTXU4HBW Limited Biomarker [4]
COL17A1 OTID5AH2 Strong Genetic Variation [5]
DLD OT378CU9 Strong Genetic Variation [6]
LAD1 OT6YGTVX Strong Genetic Variation [6]
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References

1 Gene therapy of canine leukocyte adhesion deficiency using lentiviral vectors with human CD11b and CD18 promoters driving canine CD18 expression.Mol Ther. 2011 Jan;19(1):113-21. doi: 10.1038/mt.2010.203. Epub 2010 Sep 21.
2 Kindlin-3 is required for the stabilization of TCR-stimulated LFA-1:ICAM-1 bonds critical for lymphocyte arrest and spreading on dendritic cells.Blood. 2011 Jun 30;117(26):7042-52. doi: 10.1182/blood-2010-12-322859. Epub 2011 May 2.
3 Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.J Clin Immunol. 2019 Apr;39(3):309-315. doi: 10.1007/s10875-019-00617-4. Epub 2019 Mar 27.
4 The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.J Clin Immunol. 2009 Jan;29(1):117-22. doi: 10.1007/s10875-008-9226-z. Epub 2008 Aug 16.
5 Characterization of single amino acid substitutions in the 2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.Blood Cells Mol Dis. 2015 Feb;54(2):177-82. doi: 10.1016/j.bcmd.2014.11.005. Epub 2014 Nov 28.
6 A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III.Pediatr Blood Cancer. 2015 Sep;62(9):1677-9. doi: 10.1002/pbc.25537. Epub 2015 Apr 8.