title: Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations.
abstract: Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia and immune deficiency. WAS gene mutations impair WAS protein function which cause WAS. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may have similar but less severe symptoms those are also caused by mutations of the same gene. We present two cases of WAS in neonates with WAS gene mutations. Early genetic diagnosis can help to the treatment and prevention this disease.
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
authors.forename: Shulian
authors.initials: S
authors.lastname: Zhang
authors.forename: Rong
authors.initials: R
authors.lastname: Zhang
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
authors.forename: Jinqiao
authors.initials: J
authors.lastname: Sun
mesh_terms: D001483:Base Sequence; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein