Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect.
Abstract
null null Introduction null 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). null null null Aim null The aim was to further elucidate the mechanisms of disease by molecular studies in a patient with SLC29A3 gene...
Paper Details
Title
Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect.
Published Date
May 1, 2020
Journal
Volume
121
Pages
28 - 37
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