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Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
Date
2020-05-01
Author
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
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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).
Subject Keywords
Immunology
,
Molecular Biology
URI
https://hdl.handle.net/11511/36291
Journal
MOLECULAR IMMUNOLOGY
DOI
https://doi.org/10.1016/j.molimm.2020.02.014
Collections
Department of Biology, Article
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D. Cagdas et al., “Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect,”
MOLECULAR IMMUNOLOGY
, pp. 28–37, 2020, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/36291.