{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Aybar-Torres A"],"funding":["NHLBI NIH HHS"],"pubmed_abstract":["The significance of STING (encoded by the <i>TMEM173</i> gene) in tissue inflammation and cancer immunotherapy has been increasingly recognized. Intriguingly, common human <i>TMEM173</i> alleles R71H-G230A-R293Q (<i>HAQ)</i> and G230A-R293Q (<i>AQ</i>) are carried by ~60% of East Asians and ~40% of Africans, respectively. Here, we examine the modulatory effects of <i>HAQ, AQ</i> alleles on STING-associated vasculopathy with onset in infancy (SAVI), an autosomal dominant, fatal inflammatory disease caused by gain-of-function human <i>STING</i> mutations. CD4 T cellpenia is evident in SAVI patients and mouse models. Using STING knock-in mice expressing common human <i>TMEM173</i> alleles <i>HAQ</i>, <i>AQ</i>, and <i>Q293</i>, we found that <i>HAQ, AQ</i>, and <i>Q293</i> splenocytes resist "],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2023.10.05.561109"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10602033"],"repository":["biostudies-literature"],"pubmed_title":["The common <i>TMEM173 HAQ, AQ</i> alleles rescue CD4 T cellpenia, restore T-regs, and prevent <i>SAVI (N153S)</i> inflammatory disease in mice."],"pmcid":["PMC10602033"],"funding_grant_id":["R01 HL152163"],"pubmed_authors":["Aybar-Torres A","Sharma AK","Pham AT","Saldarriaga LA","Emtiazjoo AM","Bryant AJ","Jin L"],"additional_accession":[]},"is_claimable":false,"name":"The common <i>TMEM173 HAQ, AQ</i> alleles rescue CD4 T cellpenia, restore T-regs, and prevent <i>SAVI (N153S)</i> inflammatory disease in mice.","description":"The significance of STING (encoded by the <i>TMEM173</i> gene) in tissue inflammation and cancer immunotherapy has been increasingly recognized. Intriguingly, common human <i>TMEM173</i> alleles R71H-G230A-R293Q (<i>HAQ)</i> and G230A-R293Q (<i>AQ</i>) are carried by ~60% of East Asians and ~40% of Africans, respectively. Here, we examine the modulatory effects of <i>HAQ, AQ</i> alleles on STING-associated vasculopathy with onset in infancy (SAVI), an autosomal dominant, fatal inflammatory disease caused by gain-of-function human <i>STING</i> mutations. CD4 T cellpenia is evident in SAVI patients and mouse models. Using STING knock-in mice expressing common human <i>TMEM173</i> alleles <i>HAQ</i>, <i>AQ</i>, and <i>Q293</i>, we found that <i>HAQ, AQ</i>, and <i>Q293</i> splenocytes resist ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-04-08T13:29:06.833Z","creation":"2025-08-24T03:08:41.247Z"},"accession":"S-EPMC10602033","cross_references":{"pubmed":["37886547"],"doi":["10.1101/2023.10.05.561109"]}}