Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

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

MOLECULAR IMMUNOLOGY, vol.121, pp.28-37, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 121
  • Publication Date: 2020
  • Doi Number: 10.1016/j.molimm.2020.02.014
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.28-37
  • Keywords: 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
  • Hacettepe University Affiliated: Yes


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).