Abstract | BACKGROUND: CASE PRESENTATION: Herein, 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. CONCLUSION:
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Authors | Vadood Javadi Parvaneh, Leila Ghasemi, Khosro Rahmani, Reza Shiari, Mahbobeh Mesdaghi, Zahra Chavoshzadeh, Seyed Hassan Tonekaboni |
Journal | Auto- immunity highlights
(Auto Immun Highlights)
Vol. 11
Issue 1
Pg. 9
(Dec 2020)
ISSN: 2038-0305 [Print] England |
PMID | 32612799
(Publication Type: Case Reports)
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Copyright | © The Author(s) 2020. |