Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
- Cagdas, Deniz
- Surucu, Naz
- TAN, ÇAĞMAN
- ÖZGÜL, RIZA KÖKSAL
- Akkaya-Ulum, Yeliz Z.
- Aydinoglu, Ayse Tulay
- Aytac, Selin
- GÜMRÜK, FATMA
- Balci-Hayta, Burcu
- Balci-Peynircioglu, Banu
- ÖZEN, SEZA
- Gürsel, Mayda
- Tezcan, Ilhan
Publication date
May 2020
DOI Publisher
Elsevier BV Journal
Molecular ImmunologyAbstract
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)
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