MOLECULAR IMMUNOLOGY, vol.121, pp.28-37, 2020 (Journal Indexed in SCI)
Article / Article
Title of Journal :
H syndrome, Combined immunodeficiency, Autoinflammation, Degenerative arhritis, Pure red cell aplasia, INNATE IMMUNE-RESPONSES, H-SYNDROME, MITOCHONDRIAL-DNA, INFLAMMASOME ACTIVATION, NUCLEOSIDE, NLRP3, MUTATIONS, TRANSPORTERS, RECEPTORS, FEATURES
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).