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Abstract
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease resulting from variants in the WAS gene, characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the fact that WAS is traditionally differentiated from immune thrombocytopenia (ITP) by small size of WAS platelets, in practice, microthrombocytopenia may occasionally not be present, and in certain cases, WAS patients exhibit some parallelism to ITP patients. We characterized one patient presenting with the classic form of the disease but increased mean platelet volume. Molecular studies revealed a novel hemizygous 1-bp deletion in WAS gene, c.802delC, leading to a frameshift and stop codon at amino acid 308 (p.Arg268Glyfs*40). Next-generation sequencing of a total of 70 additional genes known to harbor variants implicated in inherited platelet disorders did not identify additional defects. The pathogenesis of macrothrombocytopenia in this case is not known, but probably the coexistence of a still unidentified additional genetic variant might be involved.
Author contributions and acknowledgments
MDR, RB, JP, RB, and KJ undertook the molecular studies of the patient. MMP, NR, and EB performed the FCM analysis. BG, SR, AHBS, and DB interpreted the clinical and laboratory data. JMB and JR interpreted the molecular analysis. JMB wrote the manuscript, which was critically reviewed by JMHR, VV, JRGP, and MLL. All authors read and approved the final manuscript. JRGP was the principal investigator. We are grateful to Irene Rodríguez and Sara González for their help in isolating DNA and to Javier Corral for his advice on the molecular screening. Our study has been supported in the part by a grant from the Gerencia Regional de Salud: [grant number GRS 1370/A/16].
Declaration of interest
The authors report no declarations of interest.