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 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.