Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect

Molecular Immunology
Deniz Çağdaşİlhan Tezcan

Abstract

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). The aim was to further elucidate the mechanisms of disease by molecular studies in a patient with SLC29A3 gene defect. Mitochondrial dysfunction, lysosomal integrity, cytokine response in response to stimulation with different pattern recognition receptor ligands, and circulating cell-free mitochondrial-DNA(ccf-mtDNA) level in plasma were analyzed compared to controls to understand the cellular triggers of autoinflammation. RNA sequencing (RS) analyses were also performed in monocytes before/after culture with lipopolysaccharide. Patient had progressive destructive arthropathy in addition to clinical findings due to combined immunodeficiency. Pure red cell aplasia (PRCA), vitiligo, diabetes, multiple autoantibody positivity, lymphopenia, increased acute phase reactants were present. Recent thymic emigrants (RTE), naïve T cells were decreased, effector memory CD4 + T cells, nonclassical inflammatory monocytes were increased. Patient's peripheral bl...Continue Reading

Citations

Feb 25, 2021·Nature Communications·Avinash K PersaudRajgopal Govindarajan
Nov 25, 2020·Chemical Reviews·Nicholas J Wright, Seok-Yong Lee
May 6, 2021·International Journal of Dermatology·Pierre HamannTullia De Risi-Pugliese
Jul 2, 2021·Pediatric Rheumatology Online Journal·Laura Ventura-EspejoJan Ramakers
Aug 31, 2021·Current Opinion in Otolaryngology & Head and Neck Surgery·Nadia L SamahaMichael Hoa
Jun 20, 2021·The Journal of Allergy and Clinical Immunology. in Practice·Deniz CagdasIlhan Tezcan

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