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Case Reports
. 2019 Apr 28;4(8):1187-1189.
doi: 10.1016/j.ekir.2019.04.014. eCollection 2019 Aug.

COPA Syndrome as a Cause of Lupus Nephritis

Siham Boulisfane-El Khalifi  1 , Sebastien Viel  2   3   4 , Annie Lahoche  5 , Marie-Louise Frémond  6   7 , Jonathan Lopez  2   3   8 , Christine Lombard  2 , Francois Dubos  1 , Héloise Reumaux  1 , Viviane Gnemmi  9 , Marie Legendre  10 , Yanick J Crow  7   11   12 , Caroline Thumerelle  13 , Alexandre Belot  3   4   14
Affiliations
Case Reports

COPA Syndrome as a Cause of Lupus Nephritis

Siham Boulisfane-El Khalifi et al. Kidney Int Rep. .
No abstract available

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Figures

Figure 1
Figure 1
Kidney biopsy specimen of patient 1 (case index). (a) Proliferative lesions associated with focal and segmental glomerulosclerosis. (b) Immunofluorescence study revealed endomembranous deposits of C1q, C3, IgM, and IgG (bar = 50 µm).
Figure 2
Figure 2
Genetic and immunologic description. (a) Family tree of the index case (III.9) with mutation segregation and clinical features. (b) Type I interferon (IFN) assessment in whole blood of members of the family. The IFN signature was increased in all symptomatic patients carrying the familial mutation.
See this image and copyright information in PMC

References

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    1. Watkin L.B., Jessen B., Wiszniewski W. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47:654–660. - PMC - PubMed
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    1. Volpi S., Tsui J., Mariani M. Type I interferon pathway activation in COPA syndrome. Clin Immunol. 2018;187:33–36. - PubMed

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