{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Abolhassani H"],"funding":["National Center for Advancing Translational Sciences","Square Foundation","Bundesministerium für Bildung und Forschung","French Foundation for Medical Research","Intramural NIH HHS","NCATS NIH HHS","Grandir—Fonds de solidarité pour l’enfance","Howard Hughes Medical Institute","NIAID NIH HHS","French National Research Agency","Institut National de la Santé et de la Recherche Médicale","National Institutes of Health","St. Giles Foundation","European Commission","National Institute of Allergy and Infectious Diseases","Wilhelm Sander-Stiftung","Deutsche Forschungsgemeinschaft","Crafoord Foundation","National Cancer Institute","Paris Cité University","Rockefeller University"],"pagination":["e20250016"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12435966"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["1(4)"],"pubmed_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 (<i>TNFRSF13B</i>), encoding the B cell surface protein TACI. Heterozygous variants in <i>TNFRSF13B</i> are not sufficient to cause PAD, as approximately 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 <i>TNFR"],"journal":["Journal of human immunity"],"pubmed_title":["Re-evaluation of the contribution of &lt;i&gt;TNFRSF13B&lt;/i&gt; variants to antibody deficiency."],"pmcid":["PMC12435966"],"funding_grant_id":["390874280","GAIN 01GM2206A","AI-061093","UL1TR001866","2023.115.1","UL1 TR001866","#519635399","Z99 CA999999","SFB1160/3_B5","AI-08603","ANR-10-LABX-62-IBEID","P01AI061093","P01 AI061093","EQU201903007798","390939984","ANR-10-IAHU-01"],"pubmed_authors":["Cunningham-Rundles C","Proietti M","Grimbacher B","Boisson B","Yang M","Rezaei N","Casanova JL","Hammarstrom L","Delavari S","Abolhassani H","Schaffer AA","Maffucci P","Caballero-Oteyza A","Pan-Hammarstrom Q"],"additional_accession":[]},"is_claimable":false,"name":"Re-evaluation of the contribution of &lt;i&gt;TNFRSF13B&lt;/i&gt; variants to antibody deficiency.","description":"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 (<i>TNFRSF13B</i>), encoding the B cell surface protein TACI. Heterozygous variants in <i>TNFRSF13B</i> are not sufficient to cause PAD, as approximately 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 <i>TNFR","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-06T21:57:50.822Z","creation":"2026-06-05T03:11:57.58Z"},"accession":"S-EPMC12435966","cross_references":{"pubmed":["40959164"],"doi":["10.70962/jhi.20250016"]}}