Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS and 5 with XLT, from...

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Bibliographic Details
Published in:Platelets
Main Authors: Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Format: Article
Language:English
Published: Taylor & Francis Group 2022-07-01
Subjects:
eltrombopag
novel pathogenic was gene mutations
pineoblastoma
wiskott-aldrich syndrome
x-linked thrombocytopenia
Online Access:http://dx.doi.org/10.1080/09537104.2021.1988549
Description
Summary:Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS and 5 with XLT, from 6 different families. Two novel mutations, p.Gly387GlufsTer58 and p.Ala134Asp, were identified in patients with WAS. Both patients had severe clinical phenotypes compatible with classic WAS and developed lethal outcomes with intracranial hemorrhage. Other than that, one patient with XLT developed pineoblastoma.
ISSN:0953-7104
1369-1635

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