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leukocyte adhesion deficiency-3; leukocyte adhesion deficiency 1 variant (LAD3)
Epidemiology: rare
Genetics:
- associated with defects in RASGRP2
- 2 patients with LAD3 share a common homozygous mutation in a critical acceptor splice region which leads to loss of expression of RASGRP2
- associated with defects in FERMT3
Pathology:
- despite expressing intact integrins, leukocytes are deficient in a wide range of adhesion-dependent functions
Clinical manifestations:
- recurrent bacterial infections, non pyogenic
- major bleeding disorders
Laboratory:
- complete blood count (CBC)
- leukocytosis
- see ARUP consult [2]
General
leukocyte adhesion deficiency
Database Correlations
OMIM 612840
References
- UniProt :accession Q7LDG7
- ARUP Consult: Leukocyte Adhesion Deficiency
The Physician's Guide to Laboratory Test Selection & Interpretation
https://www.arupconsult.com/content/leukocyte-adhesion-deficiency