Abstract
BackgroundOur 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.MethodsA 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.ResultsOur 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).ConclusionsOur 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.
Highlights
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
Primary immunodeficiencies (PIDs) are an inherited group of over 200 disorders that affect distinct components of the innate and adaptive immune system and predispose affected individuals to increased rate and severity of infection, immune dysregulation with autoimmune disease and malignancy [1, 2]. They are generally recognized as rare disorders, higher prevalence are expected with the improvement of Primary immunodeficiency (PID) analysis [3]
At present, strong evidence exist in favor of the notion that PIDs are more prevalent in patients with autoimmune conditions than in general population
Summary
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. Primary immunodeficiencies (PIDs) are an inherited group of over 200 disorders that affect distinct components of the innate and adaptive immune system and predispose affected individuals to increased rate and severity of infection, immune dysregulation with autoimmune disease and malignancy [1, 2]. They are generally recognized as rare disorders, higher prevalence are expected with the improvement of PIDs analysis [3]. One study of 35 JIA patients has reported a prevalence of 14.3 % for C4 deficiencies [12] and in another two studies, C4 allotyping was considered in JIA population in order to find genetic susceptibility factors for the disease [13, 14]
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