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 İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 121
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.molimm.2020.02.014
  • Dergi Adı: MOLECULAR IMMUNOLOGY
  • Sayfa Sayıları: ss.28-37

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).