Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

Cagdas, Deniz
Surucu, Naz
Akkaya-Ulum, Yeliz Z.
Aydinoglu, Ayse Tulay
Aytac, Selin
Balci-Hayta, Burcu
Balci-Peynircioglu, Banu
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).


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Cancer-testis (CT) genes are expressed in various cancers but not in normal tissues other than in cells of the germline. Although DNA demethylation of promoter-proximal CpGs of CT genes is linked to their expression in cancer, the mechanisms leading to demethylation are unknown. To elucidate such mechanisms we chose to study the Caco-2 colorectal cancer cell line during the course of its spontaneous differentiation in vitro, as we found CT genes, in particular PAGE2, -2B and SPANX-B, to be up-regulated duri...
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Citation Formats
D. Cagdas et al., “Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect,” MOLECULAR IMMUNOLOGY, pp. 28–37, 2020, Accessed: 00, 2020. [Online]. Available: