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Article

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

Haematologica - 1 Mar 2018

Nagy Magdolna, Mastenbroek Tom G, Mattheij Nadine J A, de Witt Susanne, Clemetson Kenneth J, Kirschner Janbernd, Schulz Ansgar S, Vraetz Thomas, Speckmann Carsten, Braun Attila, Cosemans Judith M E M, Zieger Barbara, Heemskerk Johan W M

Abstract excerpt

In patients with dysfunctions of the Ca2+ channel ORAI1, stromal interaction molecule 1 (STIM1) or integrin-regulating kindlin-3 (FERMT3), severe immunodeficiency is frequently linked to abnormal platelet activity. In this paper, we studied platelet responsiveness by multiparameter assessment of whole blood thrombus formation under high-shear flow conditions in 9 patients, including relatives, with confirmed rare...

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Share to Immunologic Deficiency Syndromes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29242293
DOI: 10.3324/haematol.2017.176974
PMCID: PMC5830379

Genes

ORAI1
FERMT3
STIM1
VWF

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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