The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Abstract Background We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in circulating B lymphocytes and...

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Bibliographic Details
Main Authors: Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
co‐occurrence
immuno‐SRM
newborn screening
Wilson disease
X‐linked agammaglobulinemia
Online Access:https://doi.org/10.1002/mgg3.1172

Internet

https://doi.org/10.1002/mgg3.1172

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