Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers.

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.

• Authors: Mihaela Spârchez, Iulia Lupan, Dan Delean, Aurel Bizo, Laura Damian, Laura Muntean, Maria Magdalena Tămaș, Claudia Bolba, Bianca Simionescu, Cristina Slăvescu, Ioana Felea, Călin Lazăr, Zeno Spârchez, Simona Rednic
• Journal: Pediatric rheumatology online journal (Pediatr Rheumatol Online J) Vol. 13 Pg. 51 (Nov 21 2015) ISSN: 1546-0096 [Electronic] England
• PMID: 26590091 (Publication Type: Journal Article, Multicenter Study, Observational Study)

Chemical References

• Complement C2
• Complement C4
• Complement System Proteins

Topics

• Adolescent
• Age of Onset
• Arthritis, Juvenile (epidemiology, immunology)
• Autoimmune Diseases (epidemiology, immunology)
• Child
• Child, Preschool
• Complement C2 (deficiency)
• Complement C4 (deficiency)
• Complement System Proteins (deficiency)
• Female
• Humans
• Immunologic Deficiency Syndromes (epidemiology, immunology)
• Infant
• Lupus Erythematosus, Systemic (epidemiology, immunology)
• Male
• Prospective Studies
• Rheumatic Diseases (epidemiology, immunology)
• Scleroderma, Systemic (epidemiology, immunology)
• Systemic Vasculitis (epidemiology, immunology)
• Uveitis (epidemiology, immunology)