Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: Spârchez, Mihaela; Lupan, Iulia; Delean, Dan; Bizo, Aurel; Damian, Laura; Muntean, Laura; Tămaș, Maria; Bolba, Claudia; Simionescu, Bianca; Slăvescu, Cristina; Felea, Ioana; Lazăr, Călin; Spârchez, Zeno; Rednic, Simona
• Is Part Of: Pediatric rheumatology online journal. Volume 13:Issue 1(2015)
• Page Start: 1
• Page End: 9
• Publication Date: 2015-12
• Subjects: Primary complement -- Antibody deficiency -- Juvenile idiopathic arthritis -- Juvenile onset systemic lupus erythematosus; Pediatric rheumatology -- Periodicals; Rheumatism in children -- Periodicals; 618.92723
• DOI: 10.1186/s12969-015-0050-8
• Languages: English
• ISSNs: 1546-0096

Abstract

Abstract Background Our aim was to investigate the prevalence and clinical relevance of inherited complement and antibody deficiency states in a large series of patients with various autoimmune rheumatologic diseases (ARD) with juvenile onset. Methods A total number of 117 consecutive patients from 2 tertiary referral hospitals were included in the study. All patients underwent genetic screening for type I C2 deficiency and C4 allotyping. Serum levels of immunoglobulin classes measured systematically throughout their regular medical care were recorded retrospectively. Results Our cohort of patients included 84 with juvenile idiopathic arthritis (JIA), 21 with systemic lupus erythematosus (SLE), 6 with systemic vasculitis, 2 with juvenile scleroderma, 2 with idiopathic uveitis, 1 with mixed connective tissue disease and 1 with SLE/scleroderma overlap syndrome. We have found 16 patients with evidence of primary immunodeficiency in our series (13.7 %), including 7 with C4 deficiency, 5 with selective IgA deficiency, 3 with C2 deficiency and 2 with unclassified hypogammaglobulinemia (one also presented C4D). Of the 84 patients with JIA, 4 (4.8 %) had a complement deficiency, which was less prevalent than in the SLE cohort (23.8 %), but all of them have exhibited an aggressive disease. Most of our patients with primary antibody deficiencies showed a more complicated and severe disease course and even the co-occurrence of two associated autoimmune diseases (SLE/scleroderma overlap syndrome and SLE/autoimmune hepatitis type 1 overlap). Conclusions Our findings among others demonstrate that complement and immunoglobulin immunodeficiencies need careful consideration in patients with ARD, as they are common and might contribute to a more severe clinical course of the disease.