leukocyte adhesion deficiency-3; leukocyte adhesion deficiency 1 variant (LAD3)
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Epidemiology
rare
Pathology
- despite expressing intact integrins, leukocytes are deficient in a wide range of adhesion-dependent functions
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
Clinical manifestations
Laboratory
- complete blood count (CBC)
- see ARUP consult[2]
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q7LDG7.html
- ↑ 2.0 2.1 ARUP Consult: Leukocyte Adhesion Deficiency The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/leukocyte-adhesion-deficiency