title: Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.
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.
authors.affiliation: a Department of Hematology , H. Universitario de Salamanca-IBSAL , Salamanca , Spain.
authors.forename: Jose Maria
authors.initials: JM
authors.lastname: Bastida
authors.affiliation: b IBSAL, IBMCC, CIC , Universidad de Salamanca-CSIC , Salamanca , Spain.
authors.forename: Monica
authors.initials: M
authors.lastname: Del Rey
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Revilla
authors.affiliation: b IBSAL, IBMCC, CIC , Universidad de Salamanca-CSIC , Salamanca , Spain.
authors.forename: Rocio
authors.initials: R
authors.lastname: Benito
authors.affiliation: d Cancer Research Centre (IBMCC, CSIC-USAL), Institute of Biomedical Research of Salamanca (IBSAL), and Cytometry Service (NUCLEUS) and Department of Medicine , University of Salamanca , Salamanca , Spain.
authors.forename: Martin
authors.initials: M
authors.lastname: Perez-Andrés
authors.affiliation: e Department of Pediatrics , H. Universitario La Paz , Madrid , Spain.
authors.forename: Berta
authors.initials: B
authors.lastname: González
authors.affiliation: f Department of Pediatrics , H. Universitario de Salamanca-IBSAL , Salamanca , Spain.
authors.forename: Susana
authors.initials: S
authors.lastname: Riesco
authors.affiliation: b IBSAL, IBMCC, CIC , Universidad de Salamanca-CSIC , Salamanca , Spain.
authors.forename: Kamila
authors.initials: K
authors.lastname: Janusz
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.
authors.forename: Jose
authors.initials: J
authors.lastname: Padilla
authors.affiliation: f Department of Pediatrics , H. Universitario de Salamanca-IBSAL , Salamanca , Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Hortal Benito-Sendin
authors.affiliation: e Department of Pediatrics , H. Universitario La Paz , Madrid , Spain.
authors.forename: David
authors.initials: D
authors.lastname: Bueno
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Blanco
authors.affiliation: a Department of Hematology , H. Universitario de Salamanca-IBSAL , Salamanca , Spain.|b IBSAL, IBMCC, CIC , Universidad de Salamanca-CSIC , Salamanca , Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Hernández-Rivas
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.|g Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Instituto de Salud Carlos III (ISCIII) , Madrid , Spain.
authors.forename: Vicente
authors.initials: V
authors.lastname: Vicente
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.|g Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Instituto de Salud Carlos III (ISCIII) , Madrid , Spain.
authors.forename: Jose
authors.initials: J
authors.lastname: Rivera
authors.affiliation: a Department of Hematology , H. Universitario de Salamanca-IBSAL , Salamanca , Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: González-Porras
authors.affiliation: c Centro Regional de Hemodonación , H. Universitario Morales Meseguer, IMIB-Arrixaca , Murcia , Spain.|g Grupo de Investigación CB15/00055 del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Instituto de Salud Carlos III (ISCIII) , Madrid , Spain.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Lozano
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008297:Male; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome
keywords: Genetic diagnosis; Wiskott–Aldrich syndrome; immune thrombocytopenia; inherited thrombocytopenia; next-generation sequencing