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

ABSTRACT: 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 genetic mutations of ORAI1, STIM1 or FERMT3. In platelets isolated from 5 out of 6 patients with ORAI1 or STIM1 mutations, store-operated Ca²⁺ entry (SOCE) was either completely or partially defective compared to control platelets. Parameters of platelet adhesion and aggregation on collagen microspots were impaired for 4 out of 6 patients, in part related to

SUBMITTER: Nagy M 

PROVIDER: S-EPMC5830379 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature