Abstract
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. It has previously been suggested to be associated with a variety of concomitant autoimmune diseases. In this review, we present data on the prevalence of IgAD in patients with Graves disease (GD), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), celiac disease (CD), myasthenia gravis (MG) and rheumatoid arthritis (RA) on the basis of both our own recent large-scale screening results and literature data. Genetic factors are important for the development of both IgAD and various autoimmune disorders, including GD, SLE, T1D, CD, MG and RA, and a strong association with the major histocompatibility complex (MHC) region has been reported. In addition, non-MHC genes, such as interferon-induced helicase 1 (IFIH1) and c-type lectin domain family 16, member A (CLEC16A), are also associated with the development of IgAD and some of the above diseases. This indicates a possible common genetic background. In this review, we present suggestive evidence for a shared genetic predisposition between these disorders.
Highlights
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency with a frequency of 1 in 600 in Caucasians [1]
We recently investigated the association of IgAD with Graves disease (GD), defined by elevated serum levels of thyrotropin-receptor autoantibodies (TRAbs), in Icelandic and Swedish patients [15]
Other genes found to be associated with rheumatoid arthritis (RA) by genome-wide association study (GWAS) include tumor necrosis factor receptor–associated factor 1 and encoding complement component 5 (TRAF1-C5); signal transducer and activator of transcription 4 (STAT4); TNFAIP3; IL2-IL21; CD40; interleukin 2 receptor alpha (IL2RA); protein tyrosine phosphatase, receptor type, C (PTPRC) and interferon regulatory factor 5 (IRF5), where cytotoxic T-lymphocyte-associated protein 4 (CTLA4) was associated with both RA and Juvenile rheumatoid arthritis (JRA) [166]
Summary
Selective immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency with a frequency of 1 in 600 in Caucasians [1]. Previous studies have reported an increased frequency of IgAD among SLE patients, ranging from 1:19 in the USA to 1:130 in Spain (Table 2) [53,54,55,56,57,58,59,60,61,62,63]. The prevalence of IgAD among the Chinese SLE patients was >30-fold higher than in the general Chinese population (1:4,146) [73], indicating a strong association between these two diseases regardless of ethnic origin (P < 2 × 10–16). The prevalence of IgAD in T1D has been reported to range from 1:27 [94] to 1:261 [95] in several reports, no cases were observed in three studies [96,97,98] (Table 3), indicating an increased frequency compared to the general population.
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