Ning Wang1, Lennart Hammarström. 1. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Abstract
PURPOSE OF REVIEW: To summarize recent publications on clinical and genetic aspects of IgA deficiency (IgAD). RECENT FINDINGS: Both major histocompatibility complex (MHC) and non-MHC genes contribute to susceptibility to the disease. The former genes appear to be located in different parts of the MHC region depending on the HLA haplotype. The latter show a marked overlap with genes associated with a variety of autoimmune disorders including Graves' disease, systemic lupus erythematosus, type 1 diabetes and celiac disease, suggesting common pathophysiological mechanisms. Various cytokines, recently shown to include interleukin 21, can induce IgA synthesis in vitro in cells from patients with IgAD, suggesting a regulatory basis of the disease. SUMMARY: IgAD is the most common primary immunodeficiency in the Western world with a prevalence of approximately 1 : 600 in the general population. It appears to be a polygenic disorder and several of the genes involved have recently been identified. The involvement of genes associated with autoimmunity may suggest that IgAD in itself is an autoimmune disease.
PURPOSE OF REVIEW: To summarize recent publications on clinical and genetic aspects of IgA deficiency (IgAD). RECENT FINDINGS: Both major histocompatibility complex (MHC) and non-MHC genes contribute to susceptibility to the disease. The former genes appear to be located in different parts of the MHC region depending on the HLA haplotype. The latter show a marked overlap with genes associated with a variety of autoimmune disorders including Graves' disease, systemic lupus erythematosus, type 1 diabetes and celiac disease, suggesting common pathophysiological mechanisms. Various cytokines, recently shown to include interleukin 21, can induce IgA synthesis in vitro in cells from patients with IgAD, suggesting a regulatory basis of the disease. SUMMARY: IgAD is the most common primary immunodeficiency in the Western world with a prevalence of approximately 1 : 600 in the general population. It appears to be a polygenic disorder and several of the genes involved have recently been identified. The involvement of genes associated with autoimmunity may suggest that IgAD in itself is an autoimmune disease.
Authors: Sumit Sharma; Beatrice Carlsson; Rita Czakó; Sirkka Vene; Mats Haglund; Johnny Ludvigsson; Göran Larson; Lennart Hammarström; Stanislav V Sosnovtsev; Robert L Atmar; Kim Y Green; Mary K Estes; Lennart Svensson Journal: J Virol Date: 2017-06-26 Impact factor: 5.103
Authors: Oliver H Robak; Markus M Heimesaat; Andrey A Kruglov; Sandra Prepens; Justus Ninnemann; Birgitt Gutbier; Katrin Reppe; Hubertus Hochrein; Mark Suter; Carsten J Kirschning; Veena Marathe; Jan Buer; Mathias W Hornef; Markus Schnare; Pascal Schneider; Martin Witzenrath; Stefan Bereswill; Ulrich Steinhoff; Norbert Suttorp; Leif E Sander; Catherine Chaput; Bastian Opitz Journal: J Clin Invest Date: 2018-07-16 Impact factor: 14.808