Experience of autoimmune and autoinflammatory diseases in a Turkish pediatric cohort with primary immunodeficiencies
| Autor: | Atil Bisgin, Ayşe Şenay Şaşihüseyinoğlu, Mahir Serbes, Sibel Balcı Çetinkaya, Rabia Miray Kisla Ekinci, Derya Ufuk Altintas, Dilek Özcan |
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| Rok vydání: | 2021 |
| Předmět: |
Pulmonary and Respiratory Medicine
Autoimmune disease business.industry Immunology General Medicine Disease Immune dysregulation medicine.disease medicine.disease_cause Autoimmunity Hypoparathyroidism Primary immunodeficiency Immunology and Allergy Medicine Autoimmune hemolytic anemia business Blau syndrome |
| Zdroj: | Allergologia et Immunopathologia. 49:1-7 |
| ISSN: | 0301-0546 |
| DOI: | 10.15586/aei.v49i6.450 |
| Popis: | Background: Primary immunodeficiency diseases (PID) are the diseases characterized by a dys-function of the immune system. Affected patients share a different phenotype such as chronic infections, allergy, autoimmunity, and autoinflammation. Methods: In all, 433 children with PID were enrolled in this study. Clinical, laboratory, and demographic data of patients were reviewed retrospectively to investigate autoimmune and autoinflammatory complications. Autoinflammation in all patients with inflammation was con-firmed by genetic analysis after excluding infectious etiology. Results: Clinical features of 433 PID patients were evaluated retrospectively with long-term fol-low-up. Autoimmune disorders were identified in 69 (15.9%) patients with PID; 31 (45%) patients had a history of autoimmune disease before diagnosis of PID. The frequency of autoimmunity in immune dysregulation subgroup (76.6%) was higher than other forms of PID. The most common autoimmune manifestations were reported to be Addison’s disease, hypoparathyroidism, and autoimmune hemolytic anemia. Autoinflammation were identified in 22 of the 433 (5.1%) patients with PID, including hyper immunoglobulin D syndrome (n = 9), Aicardi–Goutieres syn-drome 1 (n = 6), adenosine deaminase 2 deficiency (n = 3), Blau syndrome (n = 2), tumor necro-sis factor (TNF) receptor-associated periodic syndrome (n = 1), and auto-inflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation syndrome (n = 1). Conclusions: It is important to recognize association between autoimmunity, autoinflammation, and PID, which in the future could be useful for increased awareness and early diagnosis for these diseases. |
| Databáze: | OpenAIRE |
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