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

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.

Evaluation of screening for coeliac disease in children with juvenile idiopathic arthritis

“…Earlier studies have found an association between JIA and IgA deficiency (11,17), but the prevalence of IgA deficiency in JIA is unclear. The study by Ludvigsson et al (11) was a retrospective study on children with IgA deficiency, and the study by Sparchez et al (17) only included 84 children with JIA. In the present study, the prevalence of selective IgA deficiency was 0.95% (2/211).…”

“… was a retrospective study on children with IgA deficiency, and the study by Sparchez et al. only included 84 children with JIA. In the present study, the prevalence of selective IgA deficiency was 0.95% (2/211).…”

“…Earlier studies have indicated an association between IgA deficiency and JIA (11,17), although the prevalence of IgA deficiency in children with JIA is not fully determined.…”

Primary Immunodeficiency

“…To note, family members that carry the same gene mutation may present different types of autoimmune/autoinflammatory symptoms, or without such disorders [22]. In comparison with other types of defects, the autoimmune presentations are relatively common in PIDs with antibody deficiencies (e.g., CVID, selective IgA deficiency), and absence of initial components (C1-C4) of the classical complement system [23,24].…”

Celiac Disease a Road Paved with Many Obstacles. Differential Diagnosis in Children

“…Also, inflammatory markers, complete blood count, liver function tests, antinuclear antibody testing, rheumatoid factor or anti-cyclic citrullinated peptide antibody could be useful. [37,38] …”