THE ROLE OF HLA-DRB1 AND HLA-DQB1 GENES IN AUTOIMMUNITY AND A CLINICAL CASE OF ASIA SYNDROME

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Wed, 2025/06/18 - 13:14
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Laboratorinė medicina. 2025,
t. 27,
Nr. 2,
p. 79 -
83

Summary

Introduction. Autoimmunity is a condition in which the immune system treats the body’s own tissues as foreign and begins to destroy them, leading to autoimmune diseases. The Human Leukocyte Antigen (HLA) system, particularly the HLA-DRB1 and HLA-DQB1 genes, plays a crucial role in the development of autoimmune processes. In this article we analyze the significance of HLA genes in autoimmunity and present a clinical case related to Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA).

Clinical Case. We report a clinical case of a patient, who developed systemic and dermatological symptoms over five years after undergoing breast augmentation. The first symptom was an itchy rash, which later progressed and developed to migratory joint pain, hair loss and low-grade fever. In 2023, extensive tests were conducted to rule out infections and oncological conditions: no abnormalities were found, the patient was diagnosed with the systemic connective tissue disease. HLA testing using PCR revealed the HLA-DQB1*05 ir HLA-DRB1*01, the patient met the diagnostic criterias for the ASIA. Treatment with hydroxychloroquine and methylprednisolone significantly improved the patient's condition, confirming the importance of the autoimmune mechanism.

Conclusions. The literature data and the clinical case show that the HLA-DRB1 and HLA-DQB1 genes play a significant role in the onset of autoimmune diseases. This supports the importance of genetic predisposition in the development of various autoimmune processes, as well as for ASIA syndrome.

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