{"doi":"10.1101/2023.04.21.23286144","title":"A novel mutation in EROS ( <i>CYBC1</i> ) causes Chronic Granulomatous Disease","abstract":"Abstract Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterised by opportunistic infection and sterile granulomatous inflammation. CGD is caused by a failure of reactive oxygen species (ROS) production by the phagocyte NADPH oxidase. Mutations in the genes encoding phagocyte NADPH oxidase subunits cause CGD. We and others have described a novel form of CGD (CGD5) secondary to lack of EROS ( CYBC1 ), a highly selective chaperone for gp91 phox . EROS-deficient cells express minimal levels of gp91 phox and its binding partner p22 phox , but EROS also controls the expression of other proteins such as P2×7. The full nature of CGD5 is currently unknown. We describe a homozygous frameshift mutation in CYBC1 leading to CGD. Individuals who are heterozygous for this mutation are found in South Asian populations (allele frequency = 0.00006545), thus it is not a private mutation. Therefore, it is likely to be the underlying cause of other cases of CGD.","journal":"medRxiv","year":2023,"id":406704,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9492,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1052630,"name":"Esme Nichols","orcid":null,"position":1,"is_corresponding":false},{"id":1052210,"name":"Joe Thomas","orcid":"0000-0001-7255-6356","position":2,"is_corresponding":false},{"id":1052631,"name":"Rachna Shanbhag","orcid":null,"position":3,"is_corresponding":false},{"id":1052211,"name":"Neha Singh","orcid":"0000-0001-8467-2290","position":4,"is_corresponding":false},{"id":1052212,"name":"Eve L. Coomber","orcid":"0000-0002-7093-2263","position":5,"is_corresponding":false},{"id":712968,"name":"Talat H. Malik","orcid":"0000-0002-8127-6521","position":6,"is_corresponding":false},{"id":318341,"name":"Matthew C. Pickering","orcid":"0000-0002-1153-0192","position":7,"is_corresponding":false},{"id":1052213,"name":"Lyra O. Randzavola","orcid":"0000-0003-3463-1858","position":8,"is_corresponding":false},{"id":1052214,"name":"William Rae","orcid":"0000-0003-0095-2514","position":9,"is_corresponding":false},{"id":301570,"name":"Sagar Bhattad","orcid":"0000-0002-5048-9727","position":10,"is_corresponding":false},{"id":579246,"name":"David Thomas","orcid":"0000-0002-9738-2329","position":11,"is_corresponding":false},{"id":1052209,"name":"Paige M Mortimer","orcid":"0000-0002-8552-2996","position":0,"is_corresponding":true}],"reference_count":22,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:21:03.432924Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}