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Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome.
Auto Immun Highlights. 2020 Dec; 11(1):9.AI

Abstract

Background

CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.

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

CD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus.

Authors+Show Affiliations

Department of Pediatric Rheumatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Shariati Ave, Tehran, Iran.Department of Pediatric Rheumatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Shariati Ave, Tehran, Iran.Department of Pediatric Rheumatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Shariati Ave, Tehran, Iran.Department of Pediatric Rheumatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Shariati Ave, Tehran, Iran.Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Department of Pediatric Neurology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32612799

Citation

Javadi Parvaneh, Vadood, et al. "Recurrent Angioedema, Guillain-Barré, and Myelitis in a Girl With Systemic Lupus Erythematosus and CD59 Deficiency Syndrome." Auto- Immunity Highlights, vol. 11, no. 1, 2020, p. 9.
Javadi Parvaneh V, Ghasemi L, Rahmani K, et al. Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome. Auto Immun Highlights. 2020;11(1):9.
Javadi Parvaneh, V., Ghasemi, L., Rahmani, K., Shiari, R., Mesdaghi, M., Chavoshzadeh, Z., & Tonekaboni, S. H. (2020). Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome. Auto- Immunity Highlights, 11(1), 9. https://doi.org/10.1186/s13317-020-00132-2
Javadi Parvaneh V, et al. Recurrent Angioedema, Guillain-Barré, and Myelitis in a Girl With Systemic Lupus Erythematosus and CD59 Deficiency Syndrome. Auto Immun Highlights. 2020;11(1):9. PubMed PMID: 32612799.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recurrent angioedema, Guillain-Barré, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome. AU - Javadi Parvaneh,Vadood, AU - Ghasemi,Leila, AU - Rahmani,Khosro, AU - Shiari,Reza, AU - Mesdaghi,Mahbobeh, AU - Chavoshzadeh,Zahra, AU - Tonekaboni,Seyed Hassan, Y1 - 2020/06/29/ PY - 2020/02/26/received PY - 2020/06/11/accepted PY - 2020/7/3/entrez PY - 2020/7/3/pubmed PY - 2020/7/3/medline SP - 9 EP - 9 JF - Auto- immunity highlights JO - Auto Immun Highlights VL - 11 IS - 1 N2 - Background: CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations. 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: CD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus. SN - 2038-0305 UR - https://www.unboundmedicine.com/medline/citation/32612799/Recurrent_angioedema,_Guillain-Barré,_and_myelitis_in_a_girl_with_systemic_lupus_erythematosus_and_CD59_deficiency_syndrome L2 - https://autoimmunhighlights.biomedcentral.com/articles/10.1186/s13317-020-00132-2 DB - PRIME DP - Unbound Medicine ER -
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