Journal of human immunity最新文献

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency. 重新评估TNFRSF13B变异对抗体缺乏的贡献。

Journal of human immunity Pub Date : 2025-11-03 Epub Date: 2025-08-19 DOI: 10.70962/jhi.20250016

Hassan Abolhassani, Andres Caballero-Oteyza, Mingyu Yang, Michele Proietti, Samaneh Delavari, Patrick Maffucci, Alejandro A Schäffer, Bertrand Boisson, Jean-Laurent Casanova, Nima Rezaei, Qiang Pan-Hammarström, Charlotte Cunningham-Rundles, Lennart Hammarström, Bodo Grimbacher

{"title":"Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.","authors":"Hassan Abolhassani, Andres Caballero-Oteyza, Mingyu Yang, Michele Proietti, Samaneh Delavari, Patrick Maffucci, Alejandro A Schäffer, Bertrand Boisson, Jean-Laurent Casanova, Nima Rezaei, Qiang Pan-Hammarström, Charlotte Cunningham-Rundles, Lennart Hammarström, Bodo Grimbacher","doi":"10.70962/jhi.20250016","DOIUrl":"10.70962/jhi.20250016","url":null,"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 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 TNFRSF13B. We identified (i) biallelic mutations in TNFRSF13B, (ii) the HLA-class II marker (DPA1*03), and (iii) 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.","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"1 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12435966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145077141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MAGIS syndrome: phenotypes, pathogenesis, and treatment. MAGIS综合征：表型、发病机制和治疗。

Journal of human immunity Pub Date : 2025-11-03 Epub Date: 2025-08-14 DOI: 10.70962/jhi.20250065

Ian T Lamborn, Huie Jing, Eesha Chattopadhyay, Hyoungjun Ham, Yu Zhang, Helen C Su

引用次数: 0

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity. 与脱髓鞘疾病和自身免疫相关的马赛克STAT5B功能获得。

Journal of human immunity Pub Date : 2025-09-01 Epub Date: 2025-07-08 DOI: 10.70962/jhi.20250060

Erica G Schmitt, Nermina Saucier, Samuel I Risma, Sena N Arbag, Ana Kolicheski, Alexander J Paul, Tomi L Toler, Katarina Semkiu, Soe S Mar, Joshua D Milner, Jeffrey J Bednarski, Megan A Cooper

引用次数: 0

Mepolizumab treatment in a child with inherited TYK2 deficiency. Mepolizumab治疗遗传性TYK2缺乏症儿童

Journal of human immunity Pub Date : 2025-09-01 Epub Date: 2025-07-29 DOI: 10.70962/jhi.20250106

Aurélia Alimi, Stephanie Wanin, Stéphanie Boisson-Dupuis, Paul Bastard

引用次数: 0

Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management. 先天性免疫错误的风湿病学和自身免疫特征：诊断和管理的意义。

Journal of human immunity Pub Date : 2025-09-01 Epub Date: 2025-07-23 DOI: 10.70962/jhi.20250034

Joshua M Tobin, Megan A Cooper

引用次数: 0

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy. 脊椎软骨发育不良：一种神秘的免疫-骨I型干扰素病。

Journal of human immunity Pub Date : 2025-06-04 eCollection Date: 2025-07-07 DOI: 10.70962/jhi.20250035

Callie C Y Wong, Tifenn Wauquier, Carolina Uggenti, Colin Stok, Alice Lepelley, Marie-Louise Frémond, Yanick J Crow

引用次数: 0

Gut dysbiosis patterns in CVID patients with noninfectious complications observed in a germ-free mouse model through fecal microbiota transplantation. 通过粪便微生物群移植在无菌小鼠模型中观察CVID患者非感染性并发症的肠道生态失调模式。

Journal of human immunity Pub Date : 2025-05-05 Epub Date: 2025-04-23 DOI: 10.70962/jhi.20250040

Joud Hajjar, Anita Y Voigt, Margaret E Conner, Alton G Swennes, Stephanie Fowler, Chadi Calarge, Danielle D Mendonca, Dominique Armstrong, Chen-Yen Chang, Jolan E Walter, Manish J Butte, Tor Savidge, Julia Oh, Farrah Kheradmand, Joseph F Petrosino

{"title":"Gut dysbiosis patterns in CVID patients with noninfectious complications observed in a germ-free mouse model through fecal microbiota transplantation.","authors":"Joud Hajjar, Anita Y Voigt, Margaret E Conner, Alton G Swennes, Stephanie Fowler, Chadi Calarge, Danielle D Mendonca, Dominique Armstrong, Chen-Yen Chang, Jolan E Walter, Manish J Butte, Tor Savidge, Julia Oh, Farrah Kheradmand, Joseph F Petrosino","doi":"10.70962/jhi.20250040","DOIUrl":"10.70962/jhi.20250040","url":null,"abstract":"Patients with common variable immunodeficiency (CVID) who develop noninfectious complications (NIC) have worse clinical outcomes than those with infections only (INF). While gut microbiome aberrations have been linked to NIC, reductionist animal models that accurately recapitulate CVID are lacking. Our aim in this study was to uncover potential microbiome roles in the development of NIC in CVID. We performed whole-genome shotgun sequencing on fecal samples from CVID patients with NIC, INF, and their household controls. We also performed fecal microbiota transplants from CVID patients to germ-free mice. We found potentially pathogenic microbes Streptococcus parasanguinis and Erysipelatoclostridium ramosum were enriched in gut microbiomes of CVID patients with NIC. In contrast, Fusicatenibacter saccharivorans and Anaerostipes hadrus, known to suppress inflammation and promote healthy metabolism, were enriched in gut microbiomes of INF CVID patients. Fecal microbiota transplant from NIC, INF, and their household controls into germ-free mice revealed gut dysbiosis patterns only in recipients from CVID patients with NIC, but not in those from INF CVID or household controls recipients. Our findings provide a proof of concept that fecal microbiota transplant from CVID patients with NIC to germ-free mice recapitulates microbiome alterations observed in the donors.","PeriodicalId":521015,"journal":{"name":"Journal of human immunity","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145188295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0