Abstract
Selective IgA deficiency (IgAD) is considered as the most common primary immunodeficiency. Although the vast majority of affected individuals are asymptomatic, symptomatic patients suffer from recurrent infections, allergies and autoimmune diseases. In the present study, we aimed to investigate the clinical and laboratory features of children with IgAD in a tertiary children’s hospital in Turkey. The medical records of 118 patients (63 males, 55 females) aged 4–18 years (median: 7 years) seen from 2006 to 2011 were retrospectively reviewed. The most common clinical condition was infectious disease (99 patients, 83.9 %), followed by allergic (51 patients, 43.2 %) and autoimmune (20 patients, 17 %) disorders. Serum IgG, IgM and IgE levels were increased in 61 %, 22 % and 37.3 % of patients, respectively. Serum IgG subclasses were measured in 65 patients, and only 4 (6.2 %) patients had IgG2 subclass deficiency. Autoantibodies (ANA, anti-dsDNA, antigliadin IgA and IgG, tissue transglutaminase IgA and IgG, anti-TPO and anti-TG) were evaluated in 84 patients. Autoantibodies were detected in 26 (31 %) patients, only 10 had an autoimmune disorder. Sixty-one patients were followed for more than 6 months (mean: 2 years, range: 0.5–5 years), and none of them resolved during this period. Being the most comprehensive study conducted in Turkey, we believe it has importance in providing significant data on the clinical and laboratory characteristics of children with IgAD.
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References
Yel L. Selective IgA deficiency. J Clin Immunol. 2010;30:10–6.
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93:190–7.
Monteiro RC. Role of IgA and IgA fc receptors in inflammation. J Clin Immunol. 2010;30:1–9.
Cunningham-Rundles C. Physiology of IgA and IgA deficiency. J Clin Immunol. 2001;21:303–9.
Kralovicova J, Hammarstrom L, Plebani A, Webster AD, Vorechovsky I. Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J Immunol. 2003;170:2765–75.
Giambra V, Cianci R, Lolli S, Mattioli C, Tampella G, Cattalini M, et al. Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration. J Immunol. 2009;183:8280–5.
Watanabe K, Sugai M, Nambu Y, Osato M, Hayashi T, Kawaguchi M, et al. Requirement for Runx proteins in IgA class switching acting downstream of TGF-beta 1 and retinoic acid signaling. J Immunol. 2010;184:2785–92.
Janzi M, Kull I, Sjoberg R, Wan J, Melén E, Bayat N, et al. Selective IgA deficiency in early life: association to infections and allergic diseases during childhood. Clin Immunol. 2009;133:78–85.
Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol. 2008;28:S56–61.
Grundbacher FJ, Massie FS. Levels of immunoglobulin G, M, A, and E at various ages in allergic and nonallergic black and white individuals. J Allergy Clin Immunol. 1985;75:651–8.
Edwards E, Razvi S, Cunningham-Rundles C. IgA deficiency: clinical correlates and responses to pneumococcal vaccine. Clin Immunol. 2004;111:93–7.
Stiehm ER. The four most common pediatric immunodeficiencies. J Immunotoxicol. 2008;5:227–34.
Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Revised criteria for diagnosis of coeliac disease. Arch Dis Child. 1990;65:909–11.
Marsh MN. Gluten, major histocompatibility complex, and the small intestine. A molecular and immunobiologic approach to the spectrum of gluten sensitivity (‘celiac sprue’). Gastroenterology. 1992;102:330–54.
Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31:390–2.
Aksu G, Genel F, Koturoglu G, Kurugol Z, Kutukculer N. Serum immunoglobulin (IgG, IgM, IgA) and IgG subclass concentrations in healthy children: a study using nephelometric technique. Turk J Pediatr. 2006;48:19–24.
Matamoros Flori N, Mila Llambi J, Espanol Boren T, Raga Borja S, Fontan Casariego G. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol. 1997;17:333–9.
Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M, Condino-Neto A, Costa-Carvalho BT, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27:101–8.
Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27:497–502.
Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84:16–22.
Basturk B, Sari S, Aral A, Dalgic B. Prevalence of selective immunoglobulin A deficiency in healthy Turkish school children. Turk J Pediatr. 2011;53:364–8.
Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, et al. IgA deficiency: correlation between clinical and immunological phenotypes. J Clin Immunol. 2009;29:130–6.
Shkalim V, Monselize Y, Segal N, Zan-Bar I, Hoffer V, Garty BZ. Selective IgA deficiency in children in Israel. J Clin Immunol. 2010;30:761–5.
Kurt E, Metintas S, Basyigit I, Bulut I, Coskun E, Dabak S, et al. Prevalence and risk factors of allergies in Turkey: results of a multicentric cross-sectional study in children. Pediatr Allergy Immunol. 2007;18:566–74.
Jorgensen GH, Thorsteinsdottir I, Gudmundsson S, Hammarstrom L, Ludviksson BR. Familial aggregation of IgAD and autoimmunity. Clin Immunol. 2009;131:233–9.
Koskinen S. Long-term follow-up of health in blood donors with primary selective IgA deficiency. J Clin Immunol. 1996;16:165–70.
Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood. 2002;99:2694–702.
Szefler SJ, Wenzel S, Brown R, Erzurum SC, Fahy JV, Hamilton RG, et al. Asthma outcomes: biomarkers. J Allergy Clin Immunol. 2012;129(3 Suppl):S9–S23.
Kerkhof M, Dubois AE, Postma DS, Schouten JP, de Monchy JG. Role and interpretation of total serum IgE measurements in the diagnosis of allergic airway disease in adults. Allergy. 2003;58:905–11.
de Laat PC, Weemaes CM, Gonera R, van Munster PJ, Bakkeren JA, Stoelinga GB. Clinical manifestations in selective IgA deficiency in childhood-a follow-up report. Acta Paediatr Scand. 1991;80:798–804.
Litzman J, Sevcíková I, Stikarovská D, Pikulová Z, Pazdírková A, Lokaj J. IgA deficiency in Czech healthy individuals and selected patient groups. Int Arch Allergy Immunol. 2000;123:177–80.
Jimenez A, Alvarez-Doforno R, García Rodríguez MC, Ferreira A, López-Trascasa M, Fontán G. Autoantibodies in patients with IgA and IgG2 deficiencies. APMIS. 1991;99:327–32.
Fusaro AE, Fahl K, Cardoso EC, de Brito CA, Jacob CM, Carneiro-Sampaio M, et al. Profile of autoantibodies against phosphorylcholine and cross-reactivity to oxidation-specific neoantigens in selective IgA deficiency with or without autoimmune diseases. J Clin Immunol. 2010;30:872–80.
Cataldo F, Lio D, Marino V, Picarelli A, Ventura A, Corazza GR. IgG(1) antiendomysium and IgG antitissue transglutaminase (anti-tTG) antibodies in coeliac patients with selective IgA deficiency. Working Groups on Celiac Disease of SIGEP and Club del Tenue. Gut. 2000;47:366–9.
Kumar V, Jarzabek-Chorzelska M, Sulej J, Karnewska K, Farrell T, Jablonska S. Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? Clin Diagn Lab Immunol. 2002;9:1295–300.
Lenhardt A, Plebani A, Marchetti F, Gerarduzzi T, Not T, Meini A, et al. Role of human-tissue transglutaminase IgG and anti-gliadin IgG antibodies in the diagnosis of coeliac disease in patients with selective immunoglobulin A deficiency. Dig Liver Dis. 2004;36:730–4.
Dahlbom I, Olsson M, Forooz NK, Sjöholm AG, Truedsson L, Hansson T. Immunoglobulin G (IgG) anti-tissue transglutaminase antibodies used as markers for IgA-deficient celiac disease patients. Clin Diagn Lab Immunol. 2005;12:254–8.
Lurz E, Scheidegger U, Spalinger J, Schöni M, Schibli S. Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. Eur J Pediatr. 2009;168:839–45.
Volta U, Villanacci V. Celiac disease: diagnostic criteria in progress. Cell Mol Immunol. 2011;8:96–102.
Plebani A, Ugazio AG, Monafo V, Burgio GR. Clinical heterogeneity and reversibility of selective immunoglobulin A deficiency in 80 children. Lancet. 1986;1:829–31.
Koskinen S, Tolo H, Hirvonen M, Koistinen J. Long-term persistence of selective IgA deficiency in healthy adults. J Clin Immunol. 1994;14:116–9.
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Aytekin, C., Tuygun, N., Gokce, S. et al. Selective IgA Deficiency: Clinical and Laboratory Features of 118 Children in Turkey. J Clin Immunol 32, 961–966 (2012). https://doi.org/10.1007/s10875-012-9702-3
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DOI: https://doi.org/10.1007/s10875-012-9702-3