Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

Cagdas D., Surucu N., TAN Ç., ÖZGÜL R. K., Akkaya-Ulum Y. Z., Aydinoglu A. T., ...Daha Fazla

MOLECULAR IMMUNOLOGY, cilt.121, ss.28-37, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 121
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.molimm.2020.02.014
  • Dergi Adı: MOLECULAR IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.28-37
  • Anahtar Kelimeler: H syndrome, Combined immunodeficiency, Autoinflammation, Degenerative arhritis, Pure red cell aplasia, INNATE IMMUNE-RESPONSES, H-SYNDROME, MITOCHONDRIAL-DNA, INFLAMMASOME ACTIVATION, NUCLEOSIDE, NLRP3, MUTATIONS, TRANSPORTERS, RECEPTORS, FEATURES
  • Orta Doğu Teknik Üniversitesi Adresli: Evet

Özet

Introduction: H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow. Autoinflammation and autoimmunity accompanies H Syndrome (HS).