Familial aggregation of IgAD and autoimmunity

Jorgensen, Gudmundur H.; Þorsteinsdóttir, Ingunn; Guðmundsson, Sveinn; Hammarström, Lennart; Lúðvíksson, Björn Rúnar

doi:10.1016/j.clim.2008.11.013

Cited by 45 publications

(53 citation statements)

References 43 publications

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“…The fact that both sIgAD and autoimmune diseases show familial clustering and that sIgAD is associated with an increased frequency of autoimmunity raises a question regarding whether FDRs of patients of sIgAD are also at risk. In a recent study by Jorgensen et al, a higher frequency of autoimmune diseases was reported in FDRs of individuals with sIgAD compared to the general population (15). Our study also produced similar results.…”

Section: Discussionsupporting

confidence: 91%

Allergic and autoimmune disorders in families with selective IgA deficiency

et al. 2017

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Background/aim: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. We aimed to evaluate the frequency of allergic and autoimmune disorders in children with sIgAD and their firstdegree relatives (FDRs). Materials and methods:The study included 81 children diagnosed with sIgAD and 274 of their FDRs. The presence of allergic and autoimmune disorders was evaluated and serum antithyroglobulin and antithyroid peroxidase levels were measured in both patients and their first-degree relatives. Results:The mean age of the patients was 9.9 ± 3.9 years. Among the patients with sIgAD, 45.7% of them had at least one allergic disorder and 17.3% of them had at least one autoimmune disorder. The frequencies of asthma, allergic rhinitis, and eczema in the FDRs of sIgAD patients were 10.9%, 9.1%, and 7.7%, respectively. Among their FDRs, 14.6% had autoimmunity, compared to an estimate of 5% in the general population. Conclusion:Increased frequency of allergic and autoimmune disorders in patients with sIgAD and their FDRs suggests a possible common predisposing genetic component for sIgAD and autoimmunity in these families.

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Section: Discussionsupporting

confidence: 91%

Allergic and autoimmune disorders in families with selective IgA deficiency

et al. 2017

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“…These similarities are founded in patients representing the autoimmune phenotype and T reg impairment combined with observations on common MHC associations (low prevalence of C4A, C4B and DQ), antigen presentation defects and the genetic denominator in the induction of these diseases [5,16,25]. However, the number of patients examined in this study is too low to draw a final conclusion and our results should be confirmed in a larger patient cohort.…”

Section: Discussionsupporting

confidence: 63%

“…Many of these individuals have no apparent disease, whereas selected patients suffer from recurrent mucosal infections, allergies and autoimmune diseases [2,3,4]. Furthermore, unexplained coincidences between SIgAD and systemic autoimmune disorders such as systemic lupus erythematosus, rheumatoid arthritis, celiac disease, hemolytic anemia, thyroiditis, type 1 diabetes mellitus, juvenile rheumatoid arthritis and autoimmune glomerulonephritis were reported [5,6,7,8,9]. …”

Section: Introductionmentioning

confidence: 99%

Evaluation of Natural Regulatory T Cells in Subjects with Selective IgA Deficiency: From Senior Idea to Novel Opportunities

Soheili

Abolhassani²,

Arandi³

et al. 2012

Int Arch Allergy Immunol

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Background: Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency disorder, which is characterized by significantly decreased serum levels of IgA. Abnormalities of CD4+CD25^highforkhead box P3 (FoxP3)+ regulatory T cells (T_reg) have been shown in association with autoimmune and inflammatory disorders. Methods: In order to evaluate the relationship between autoimmunity and T_reg in SIgAD, we studied 26 IgA-deficient patients (aged 4–17 years) with serum IgA levels <7 mg/dl, 26 age- and sex-matched healthy controls and 26 age- and sex matched idiopathic thrombocytopenic purpura cases with normal immune system. T_reg were determined by flow cytometry using T_reg markers, including CD4, CD25 and FoxP3. Results: The mean percentage of CD4, CD25+FoxP3+ T_reg from all CD4+ cells was 4.08 ± 0.86 in healthy controls, which was significantly higher than in SIgAD patients (2.93 ± 1.3; p = 0.003). We set a cutoff point (2.36%) for T_reg, which was two standard deviations lower than the mean of normal controls. According to this cutoff point and in order to assess the role of T_reg in clinical SIgAD manifestation, we classified patients into two groups: 16 patients in G1 with T_reg <2.36% and 10 patients in G2 with T_reg >2.36%. Autoimmunity was recorded in 9 patients (53.3%) of G1 and only 1 patient of G2, respectively (p = 0.034). Although a defect in class switching recombination was observed in 40% of the patients in G1, none of the G2 patients had such a defect (p = 0.028). Conclusion: This study showed decreased proportions of T_reg in SIgAD patients, particularly in those with signs of chronic inflammation.

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“…The reasons for these associations and this predisposition are unknown, although genetically linked susceptibilities are supposed to play a role [14,15]. Therefore, it is known that mucosal resident bacteria shape the IgA repertoire and that the interaction between microbiota and IgA could be critical in controlling the pathogenesis of autoimmune disorders [16].…”

Section: Discussionmentioning

confidence: 99%

Co-Occurrence of Chronic Spontaneous Urticaria with Immunoglobulin A Deficiency and Autoimmune Diseases

Frossi

Carli

Bossi³

et al. 2016

Int Arch Allergy Immunol

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Background: Immunoglobulin (Ig) A deficiency is a primary immunodeficiency in which autoimmunity is frequently observed. Thirty to fifty percent of patients with spontaneous chronic urticaria have autoantibodies that are able to cross-link FcεRI on mast cells and basophils. Methods: We investigated whether spontaneous chronic urticaria in patients with IgA deficiency meets the criteria for autoimmunity. Four patients were screened for positivity to a skin prick test and an autologous serum skin test and for the presence of other autoimmune diseases. Patient sera were tested for the ability to activate basophils and mast cells in vitro by measuring surface CD63 expression and β-hexosaminidase release, respectively. Results: The autologous serum test was positive in all patients, and patient sera were found to induce CD63 upregulation on basophils and degranulation of an LAD2 mast cell line. Moreover, all patients were affected by other autoimmune disorders. Conclusion: For the first time, these data point out chronic autoimmune urticaria in subjects with an IgA deficiency and confirm that different autoimmune disorders are common among patients with an IgA deficiency. Patients with chronic autoimmune spontaneous urticaria should be screened for IgA deficiency, especially if they are affected by other autoimmune disorders. Thus, spontaneous urticaria could mirror more complex systemic diseases, such as immune deficiency.

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Familial aggregation of IgAD and autoimmunity

Cited by 45 publications

References 43 publications

Allergic and autoimmune disorders in families with selective IgA deficiency

Allergic and autoimmune disorders in families with selective IgA deficiency

Evaluation of Natural Regulatory T Cells in Subjects with Selective IgA Deficiency: From Senior Idea to Novel Opportunities

Co-Occurrence of Chronic Spontaneous Urticaria with Immunoglobulin A Deficiency and Autoimmune Diseases

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