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Allergy, Asthma & Clinical Immunology
Published in: Allergy, Asthma & Clinical Immunology 1/2023

Open Access 01-12-2023 | Wiskott-Aldrich Syndrome | Case report

Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome

Authors: Vivien X. Xie, Wilson File, Christina Wiedl, Brant R. Ward, Blachy Dávila Saldaña, Michael D. Keller, Alexandra B. Kornbluh

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2023

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Abstract

Background

Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon.

Case Presentation

We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS.

Conclusions

This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options.
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Metadata
Title
Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
Authors
Vivien X. Xie
Wilson File
Christina Wiedl
Brant R. Ward
Blachy Dávila Saldaña
Michael D. Keller
Alexandra B. Kornbluh
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Allergy, Asthma & Clinical Immunology / Issue 1/2023
Electronic ISSN: 1710-1492
DOI
https://doi.org/10.1186/s13223-023-00827-x

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