{"doi":"10.1084/jem.20220131","title":"Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia","abstract":"Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children.","journal":"The Journal of Experimental Medicine","year":2022,"id":233755,"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":117,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.945,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":617473,"name":"Daniela Matuozzo","orcid":"0000-0001-9514-3837","position":1,"is_corresponding":false},{"id":104161,"name":"Jérémie Le Pen","orcid":"0000-0001-7025-9526","position":2,"is_corresponding":false},{"id":57367,"name":"Danyel Lee","orcid":"0000-0003-3124-0245","position":3,"is_corresponding":false},{"id":104478,"name":"Leen Moens","orcid":"0000-0002-5347-6526","position":4,"is_corresponding":false},{"id":617472,"name":"Takaki Asano","orcid":"0000-0003-1424-2433","position":5,"is_corresponding":false},{"id":839708,"name":"Jonathan Bohlen","orcid":"0000-0003-0458-9484","position":6,"is_corresponding":false},{"id":104460,"name":"Zhiyong Liu","orcid":"0000-0001-6473-348X","position":7,"is_corresponding":false},{"id":104461,"name":"Marcela Moncada‐Vélez","orcid":"0000-0002-3073-5345","position":8,"is_corresponding":false},{"id":628206,"name":"Yasemin Kendir Demirkol","orcid":"0000-0001-8016-5224","position":9,"is_corresponding":false},{"id":476875,"name":"Huie Jing","orcid":"0000-0001-6283-3452","position":10,"is_corresponding":false},{"id":104153,"name":"Lucy Bizien","orcid":"0000-0001-9163-9122","position":11,"is_corresponding":false},{"id":848088,"name":"Astrid Marchal","orcid":"0000-0003-0648-8126","position":12,"is_corresponding":false},{"id":48203,"name":"Hassan Abolhassani","orcid":"0000-0002-4838-0407","position":13,"is_corresponding":false},{"id":628213,"name":"Selket Delafontaine","orcid":"0000-0002-8985-8155","position":14,"is_corresponding":false},{"id":578717,"name":"Giorgia Bucciol","orcid":"0000-0001-5004-0738","position":15,"is_corresponding":false},{"id":104222,"name":"COVID Human Genetic Effort","orcid":null,"position":16,"is_corresponding":false},{"id":241301,"name":"Laurent Abel","orcid":"0000-0001-7016-6493","position":17,"is_corresponding":false},{"id":104170,"name":"Alessandro Aiuti","orcid":"0000-0002-5398-1717","position":19,"is_corresponding":false},{"id":617491,"name":"Özge Metin Akcan","orcid":"0000-0002-3465-6994","position":20,"is_corresponding":false},{"id":243779,"name":"Saleh Al‐Muhsen","orcid":null,"position":21,"is_corresponding":false},{"id":104495,"name":"Fahd Al‐Mulla","orcid":"0000-0001-5409-3829","position":22,"is_corresponding":false},{"id":628181,"name":"Gülsüm Alkan","orcid":"0000-0003-3384-769X","position":23,"is_corresponding":false},{"id":235418,"name":"Mark S. 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