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Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

5 Oct 2006

Abstract excerpt

Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder caused by mutations in the ITGB2 (CD18) gene and characterized by recurrent severe infections, impaired pus formation, and defective wound healing. We describe an unusual case of severe phenotypic LAD-1 presenting with somatic mosaicism. The patient is a compound heterozygote bearing 2 different frameshift mutations that abrogate...

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Identifiers

PMID: 17244687
DOI: 10.1182/blood-2007-08-039057

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Source receipt: pubmed, retrieved 7 Sept 2026.

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