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Article

LAD-1/variant syndrome is caused by mutations in FERMT3.

Blood - 7 May 2009

Kuijpers Taco W, van de Vijver Edith, Weterman Marian A J, de Boer Martin, Tool Anton T J, van den Berg Timo K, Moser Markus, Jakobs Marja E, Seeger Karl, Sanal Ozden, Unal Sule, Cetin Mualla, Roos Dirk, Verhoeven Arthur J, Baas Frank

Abstract excerpt

Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from a hematopoietic defect in integrin activation. In 7 consanguineous families, we previously established that this defect was not the result of defective Rap1 activation, as proposed by...

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Source

Identifiers

PMID: 19064721
DOI: 10.1182/blood-2008-10-182154

Genes

FERMT3
NRXN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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