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Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

Authors
  • Bastida, Jose Maria1
  • Del Rey, Monica2
  • Revilla, Nuria3
  • Benito, Rocio2
  • Perez-Andrés, Martin4
  • González, Berta5
  • Riesco, Susana6
  • Janusz, Kamila2
  • Padilla, Jose3
  • Hortal Benito-Sendin, Ana6
  • Bueno, David5
  • Blanco, Elena3
  • Hernández-Rivas, Maria1, 2
  • Vicente, Vicente3, 7
  • Rivera, Jose3, 7
  • González-Porras, Ramon1
  • Lozano, Maria Luisa3, 7
Type
Published Article
Journal
Platelets
Publisher
Informa UK (Taylor & Francis)
Publication Date
May 31, 2017
Volume
28
Issue
4
Pages
417–420
Identifiers
DOI: 10.1080/09537104.2016.1246715
PMID: 27885891
Source
Medline
Keywords
License
Unknown

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.

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