Repository of Research and Investigative Information

Repository of Research and Investigative Information

Zahedan University of Medical Sciences

Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity

(2021) Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatric Allergy and Immunology. pp. 1335-1348. ISSN 0905-6157

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Abstract

Background The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations. Methods We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. Results A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study. Overall, 331 patients (72.1) were born to consanguineous parents. At the time of the study, 330 individuals (75.7) were alive and 106 (24.3) were deceased. Autoimmunity was reported in 92 (20.0) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0-7.0) years. Sixteen patients (3.5) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0), ATM (in 13 patients, 14.0), and BTK (in 9 patients, 10.0) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100), 3 of 3 AIRE (100), and 21 of 30 LRBA (70.0) mutated genes had the highest prevalence of autoimmunity. Conclusions Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next-generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease.

Item Type: Article
Keywords: autoimmunity inborn errors of immunity inflammation primary immunodeficiencies variable immunodeficiency inflammatory manifestations deficiency cytopenias disorders Allergy Immunology Pediatrics
Page Range: pp. 1335-1348
Journal or Publication Title: Pediatric Allergy and Immunology
Journal Index: ISI
Volume: 32
Number: 6
Identification Number: https://doi.org/10.1111/pai.13510
ISSN: 0905-6157
Depositing User: مهندس مهدی شریفی
URI: http://eprints.zaums.ac.ir/id/eprint/5476

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