{"doi":"10.70962/jhi.20250058","title":"Recurrent severe viral infection in a child with inherited complete TBK1 deficiency","abstract":"TANK-binding kinase 1 (TBK1) acts at the crossroads of various host immune pathways. Autosomal dominant (AD) and recessive (AR) TBK1 deficiencies have been reported in human patients with herpes simplex encephalitis and SARS-CoV-2 pneumonia (AD deficiency) or systemic inflammation (AR deficiency). We describe here a Turkish boy, born to consanguineous parents and homozygous for a loss-of-function mutation of TBK1, who had experienced recurrent vesicular skin eruptions presumably triggered by herpesviral infection and five episodes of viral pneumonia since the age of 2 mo. Whole-exome sequencing identified a biallelic mutation of the TBK1 gene (NM_013254.4: c.922C>T, p.Arg308Ter). The induction of IFNB, IFNL1, IFIT1, and IL6 was abolished or severely impaired in SV40-fibroblasts from the patient following stimulation of the TLR3 or RIG-I/MDA5-RIG-I pathways. The patient underwent stem-cell transplantation, but unfortunately succumbed to suspected post-viral acute disseminated encephalomyelitis at the age of 2.5 years. AD or AR TBK1 deficiency should be considered in patients with severe viral infections.","journal":"Journal of Human Immunity","year":2025,"id":535642,"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":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9576,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1018474,"name":"Shuxiang Zhao","orcid":"0000-0001-9185-6813","position":1,"is_corresponding":false},{"id":104460,"name":"Zhiyong Liu","orcid":"0000-0001-6473-348X","position":2,"is_corresponding":false},{"id":1419257,"name":"Yasin Karalı","orcid":"0000-0002-1245-4232","position":3,"is_corresponding":false},{"id":1419258,"name":"Koray Yalçın","orcid":"0000-0003-3454-9870","position":4,"is_corresponding":false},{"id":1027942,"name":"Aaron Bodansky","orcid":"0000-0001-8943-8233","position":5,"is_corresponding":false},{"id":486074,"name":"Debanjana Chakravarty","orcid":"0000-0002-4607-9143","position":6,"is_corresponding":false},{"id":109296,"name":"Michael R. Wilson","orcid":"0000-0002-8705-5084","position":7,"is_corresponding":false},{"id":57373,"name":"Jean-Laurent Casanova","orcid":"0000-0002-7782-4169","position":8,"is_corresponding":false},{"id":57374,"name":"Shen-Ying Zhang","orcid":"0000-0002-9449-3672","position":9,"is_corresponding":false},{"id":258747,"name":"Sara Şebnem Kılıç","orcid":"0000-0001-8571-2581","position":0,"is_corresponding":true}],"reference_count":22,"raw_metadata":null,"created_at":"2026-07-19T02:51:56.297114Z","pmid":"41608123","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":[]}