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. , ...More

MOLECULAR IMMUNOLOGY, vol.121, pp.28-37, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 121
  • Publication Date: 2020
  • Doi Number: 10.1016/j.molimm.2020.02.014
  • Title of Journal : MOLECULAR IMMUNOLOGY
  • 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


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).