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Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

2020-05-01
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
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).