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

Allergy, Asthma & Clinical Immunology

Case Report

Michael D. Keller¹  Vivien X. Xie²  Alexandra B. Kornbluh²  Brant R. Ward³  Blachy Dávila Saldaña⁴  Christina Wiedl⁵  Wilson File⁶ 

[1] Center for Cancer and Immunology Research, Division of Allergy and Immunology, Children’s National Hospital, Washington, DC, USA;Department of Neurology, District of Columbia, Children’s National Hospital, 111 Michigan Ave NW, 20010, Washington, USA;Division of Allergy and Immunology, Children’s Hospital of Richmond, Virginia Commonwealth University, Richmond, VA, USA;Division of Blood and Marrow Transplantation, Children’s National Hospital, Washington, DC, USA;Division of Hematology and Oncology, District of Columbia, Children’s National Hospital, Washington, USA;Division of Hematology and Oncology, Eastern Virginia Medical School and Children’s Hospital of The King’s Daughters, Norfolk, VG, USA;

关键词: Wiskott-Aldrich syndrome;    Optic neuritis;    Demyelination;    Myelin oligodendrocyte glycoprotein antibody associated disease;   

DOI  :  10.1186/s13223-023-00827-x

 received in 2023-03-01, accepted in 2023-07-19,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundWiskott-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 PresentationWe 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.ConclusionsThis case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options.

【 授权许可】

CC BY   
© Canadian Society of Allergy & Clinical Immunology 2023

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