Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study

Akyüz A., Emecen Şanlı M., Aktaşoğlu E. Ö., GÖKALP S., BİBEROĞLU G., İNCİ A., ...Daha Fazla

Clinical Pediatrics, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1177/00099228251392699
  • Dergi Adı: Clinical Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, Public Affairs Index
  • Anahtar Kelimeler: antibody, autoimmune disease, Gaucher, HLA
  • Gazi Üniversitesi Adresli: Evet

Özet

Lysosomal dysfunction in Gaucher disease (GD) leads to inflammation, impaired cellular homeostasis, and disrupted autophagy. The alteration in immune system and the pro-inflammatory state in GD involves in the pathogenesis of the disease with increased levels of cytokines and chemokines. In this study, we aimed to analyze immunological abnormalities and association with HLA alleles in GD patients. Whole blood count, lyso-Gb3 levels, and immunological status were evaluated. A total of 13 patients confirmed to have GD were enrolled in our study. The most common positive antibody was anti-CCP and ANA. Only one patient’s HLA profile was predisposing to autoimmune disease but had no clinical findings. None of the patients had symptoms of any related diseases with detected immunological markers. In our study, clinical status of GD or HLA alleles were not associated with positive markers of autoimmune diseases. Further studies are needed to elucidate inflammatory mechanism in GD.