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Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome

Authors
  • Javadi Parvaneh, Vadood1
  • Ghasemi, Leila1
  • Rahmani, Khosro1
  • Shiari, Reza1
  • Mesdaghi, Mahbobeh2
  • Chavoshzadeh, Zahra2
  • Tonekaboni, Seyed Hassan2
  • 1 Shahid Beheshti University of Medical Sciences, Shariati Ave, Tehran, Iran , Tehran (Iran)
  • 2 Shahid Beheshti University of Medical Sciences, Tehran, Iran , Tehran (Iran)
Type
Published Article
Journal
Autoimmunity Highlights
Publisher
BioMed Central
Publication Date
Jun 29, 2020
Volume
11
Issue
1
Identifiers
DOI: 10.1186/s13317-020-00132-2
Source
Springer Nature
License
Green

Abstract

BackgroundCD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.Case presentationHerein, we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and then recurrent attacks of angioedema, paresthesia, and myelitis. Finally, she presented with quadriplegia, malar rash, proteinuria, lymphopenia, and high titer of antinuclear antibody. So, the patient developed systemic lupus erythematosus. Furthermore, we performed whole exome sequencing which revealed homozygote mutations in CD59 for the patient and heterozygote one for her parents. CD flow cytometry showed less than 1 percent expression of CD59 on the surface of the patient’s peripheral blood cells confirming the disorder. So, she had CD59 deficiency. The patient’s episodes were managed with plasma exchanges, corticosteroids, Cyclophosphamide, and Mycophenolate Mofetil which induced and maintained remission.ConclusionCD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus.

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