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Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.

Thrombosis and haemostasis - 1 May 2010

Jurk Kerstin, Schulz Ansgar S, Kehrel Beate E, Räpple Daniel, Schulze Harald, Möbest Dieter, Friedrich Wilhelm W, Omran Heymut, Deak Erika, Henschler Reinhard, Scheele Jürgen S, Zieger Barbara

Abstract excerpt

Leukocyte adhesion deficiency-III (LAD-III) also called leukocyte adhesion deficiency-1/variant (LAD1v) is a rare congenital disease caused by defective integrin activation of leukocytes and platelets. Patients with LAD-III present with non-purulent infections and increased bleeding symptoms. We report on a novel integrin-dependent platelet dysfunction in two brothers with LAD-III syndrome caused by a homozygous...

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Source

Identifiers

PMID: 20216991
DOI: 10.1160/TH09-10-0689

Genes

FERMT3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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