Hereditary Heterozygous C2 Deficiency: Variable Clinical and Serological Manifestations Among Three Sisters

Author(s): Ji Wei Yang, Eric Rich, Claire Saint-Cyr, Josiane Bourré-Tessier*.

Journal Name: Current Rheumatology Reviews

Volume 13 , Issue 2 , 2017

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Graphical Abstract:


The causal link between inherited complement deficiencies and systemic lupus erythematosus (SLE) has been well established, although it remains a rare cause of the disease. We present the case of three biological sisters with hereditary heterozygous C2 deficiency, but who differ widely in their clinical and serological manifestations. Patient 1 is 25 years old and was diagnosed with SLE at the age of 12. Further testing revealed positive ANA and anti-dsDNA, antiphospholipid syndrome (APS) and decreased C2, C3 and C4 levels. Patients 2 and 3 are 21-year-old dizygotic twins. Both have positive ANA and antiphospholipid (APL) antibodies, and decreased C2 and C4 levels. We present a case of familial heterozygous C2 deficiency with different disease phenotypes. The presence of positive APL antibodies in all 3 patients is significant, as this association has been rarely described. The variable clinical and serological manifestations among our patients further reflect the complex and multifactorial nature of SLE.

Keywords: Systemic lupus erythematosus, complement deficiency, autoimmune disorders, antiphospholipid syndrome.

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Article Details

Year: 2017
Page: [158 - 160]
Pages: 3
DOI: 10.2174/1573397112666160808093031
Price: $58

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PDF: 19