{"doi":"10.70962/jhi.20250016","title":"Re-evaluation of the contribution of <i>TNFRSF13B</i> variants to antibody deficiency","abstract":"Predominantly antibody deficiency (PAD) is the most prevalent form of human inborn errors of immunity (IEI). PAD is characterized by recurrent bacterial infections, immune dysregulation, and impaired immunoglobulin production. A monogenic cause of PAD can be identified in about 20% of cases. Approximately 10% of patients carry heterozygous mutations in the tumor necrosis factor receptor superfamily member 13B gene (TNFRSF13B), encoding the B cell surface protein TACI. Heterozygous variants in TNFRSF13B are not sufficient to cause PAD, as ∼1% of the healthy population carries one of these variants. To identify additional genetic contributors to the immune defect in these individuals, we examined the exomes of 161 PAD patients with rare-damaging variants in TNFRSF13B. We identified (1) biallelic mutations in TNFRSF13B, (2) the HLA class II marker (DPA1*03), and (3) multiple single nucleotide polymorphisms in known B cell-related genes as additional genetic risk factors. Moreover, pathogenic mutations in other known IEI genes were presented in 16% of patients with heterozygous TNFRSF13B variants.","journal":"Journal of Human Immunity","year":2025,"id":520019,"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":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9585,"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":650025,"name":"Andrés Caballero-Oteyza","orcid":"0000-0002-8892-1255","position":1,"is_corresponding":false},{"id":1389012,"name":"Mingyu Yang","orcid":"0009-0007-1621-7086","position":2,"is_corresponding":false},{"id":282439,"name":"Michele Proietti","orcid":"0000-0003-3095-0886","position":3,"is_corresponding":false},{"id":870093,"name":"Samaneh Delavari","orcid":"0000-0003-0122-0657","position":4,"is_corresponding":false},{"id":582651,"name":"Patrick Maffucci","orcid":"0000-0003-1873-0418","position":5,"is_corresponding":false},{"id":322365,"name":"Alejandro A. Schäffer","orcid":"0000-0002-2147-8033","position":6,"is_corresponding":false},{"id":241303,"name":"Bertrand Boisson","orcid":"0000-0001-5240-3555","position":7,"is_corresponding":false},{"id":57373,"name":"Jean-Laurent Casanova","orcid":"0000-0002-7782-4169","position":8,"is_corresponding":false},{"id":6925,"name":"Nima Rezaei","orcid":"0000-0002-3836-1827","position":9,"is_corresponding":false},{"id":14420,"name":"Qiang Pan‐Hammarström","orcid":"0000-0003-1990-8804","position":10,"is_corresponding":false},{"id":104929,"name":"Charlotte Cunningham‐Rundles","orcid":"0000-0003-0725-0320","position":11,"is_corresponding":false},{"id":281914,"name":"Lennart Hammarström","orcid":"0000-0002-8635-9609","position":12,"is_corresponding":false},{"id":274487,"name":"Bodo Grimbacher","orcid":"0000-0002-6897-6806","position":13,"is_corresponding":false},{"id":48203,"name":"Hassan Abolhassani","orcid":"0000-0002-4838-0407","position":0,"is_corresponding":true}],"reference_count":65,"raw_metadata":null,"created_at":"2026-07-19T02:49:23.618703Z","pmid":"40959164","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":[]}