Journal of Clinical Immunology最新文献

筛选
英文 中文
Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19. 氟西汀成功治疗了一名因 19 号染色体节段性单亲断裂而导致 CD79a 缺失的患者的颅内肠道病毒 E18 感染。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-28 DOI: 10.1007/s10875-024-01740-7
Lang Yu, Yishi Zhang, Wenhui Li, Jinxiao Mao, Yulin Li, Haoru Wang, Chenlin Li, Lu Yang, Wenli He, Yanjun Jia, Wenjing Tang, Lina Zhou, Zhiyong Zhang, Yuntao Jia, Xuemei Tang, Xiaodong Zhao, Yunfei An
{"title":"Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.","authors":"Lang Yu, Yishi Zhang, Wenhui Li, Jinxiao Mao, Yulin Li, Haoru Wang, Chenlin Li, Lu Yang, Wenli He, Yanjun Jia, Wenjing Tang, Lina Zhou, Zhiyong Zhang, Yuntao Jia, Xuemei Tang, Xiaodong Zhao, Yunfei An","doi":"10.1007/s10875-024-01740-7","DOIUrl":"10.1007/s10875-024-01740-7","url":null,"abstract":"<p><p>The pre BCR complex plays a crucial role in B cell production, and its successful expression marks the B cell differentiation from the pro-B to pre-B. The CD79a and CD79b mutations, encoding Igα and Igβ respectively, have been identified as the cause of autosomal recessive agammaglobulinemia (ARA). Here, we present a case of a patient with a homozygous CD79a mutation, exhibiting recurrent respiratory infections, diarrhea, growth and development delay, unique facial abnormalities and microcephaly, as well as neurological symptoms including tethered spinal cord, sacral canal cyst, and chronic enteroviral E18 meningitis. Complete blockade of the early B cell development in the bone marrow of the patient results in the absence of peripheral circulating mature B cells. Whole exome sequencing revealed a Loss of Heterozygosity (LOH) of approximately 19.20Mb containing CD79a on chromosome 19 in the patient. This is the first case of a homozygous CD79a mutation caused by segmental uniparental diploid (UPD). Another key outcome of this study is the effective management of long-term chronic enteroviral meningitis using a combination of intravenous immunoglobulin (IVIG) and fluoxetine. This approach offers compelling evidence of fluoxetine's utility in treating enteroviral meningitis, particularly in immunocompromised patients.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141158338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections. 猪嘴失禁和反复感染女性的 NF-κB 激活和 X 失活。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-25 DOI: 10.1007/s10875-024-01737-2
Laura Krogh Herlin, Signe Bech Sørensen, Jesper Aagaard Graakjaer, Sisse Andersen, Sigrun Alba Johannesdottir Schmidt, Mette Sommerlund, Trine H Mogensen
{"title":"NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.","authors":"Laura Krogh Herlin, Signe Bech Sørensen, Jesper Aagaard Graakjaer, Sisse Andersen, Sigrun Alba Johannesdottir Schmidt, Mette Sommerlund, Trine H Mogensen","doi":"10.1007/s10875-024-01737-2","DOIUrl":"10.1007/s10875-024-01737-2","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: Monozygotic Twins with MAGT1 Deficiency and Epstein-Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report. 更正:患有 MAGT1 缺陷和 Epstein-Barr 病毒阳性典型霍奇金淋巴瘤的单卵双生儿接受抗 CD30 CAR T 细胞免疫疗法:病例报告。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-25 DOI: 10.1007/s10875-024-01723-8
Jiachen Wang, Mi Zhou, Jianfeng Zhou, Min Xiao, Liang Huang
{"title":"Correction to: Monozygotic Twins with MAGT1 Deficiency and Epstein-Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report.","authors":"Jiachen Wang, Mi Zhou, Jianfeng Zhou, Min Xiao, Liang Huang","doi":"10.1007/s10875-024-01723-8","DOIUrl":"10.1007/s10875-024-01723-8","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11127836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141097111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation. STAT3功能增益综合征患者在造血干细胞移植后仍会出现生长障碍
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-24 DOI: 10.1007/s10875-024-01727-4
Filippo Consonni, Giulia Del Medico, Stefano Stagi, Eleonora Gambineri
{"title":"Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation.","authors":"Filippo Consonni, Giulia Del Medico, Stefano Stagi, Eleonora Gambineri","doi":"10.1007/s10875-024-01727-4","DOIUrl":"10.1007/s10875-024-01727-4","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141087714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients. 常见变异性免疫缺陷病患者十二指肠全基因组DNA甲基化的改变
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-23 DOI: 10.1007/s10875-024-01726-5
Mingyi Yang, Mari Kaarbø, Vegard Myhre, Henrik M Reims, Tom H Karlsen, Junbai Wang, Torbjørn Rognes, Bente Halvorsen, Børre Fevang, Knut E A Lundin, Pål Aukrust, Magnar Bjørås, Silje F Jørgensen
{"title":"Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients.","authors":"Mingyi Yang, Mari Kaarbø, Vegard Myhre, Henrik M Reims, Tom H Karlsen, Junbai Wang, Torbjørn Rognes, Bente Halvorsen, Børre Fevang, Knut E A Lundin, Pål Aukrust, Magnar Bjørås, Silje F Jørgensen","doi":"10.1007/s10875-024-01726-5","DOIUrl":"10.1007/s10875-024-01726-5","url":null,"abstract":"<p><strong>Purpose: </strong>A large proportion of Common variable immunodeficiency (CVID) patients has duodenal inflammation with increased intraepithelial lymphocytes (IEL) of unknown aetiology. The histologic similarities to celiac disease, lead to confusion regarding treatment (gluten-free diet) of these patients. We aimed to elucidate the role of epigenetic DNA methylation in the aetiology of duodenal inflammation in CVID and differentiate it from true celiac disease.</p><p><strong>Methods: </strong>DNA was isolated from snap-frozen pieces of duodenal biopsies and analysed for differences in genome-wide epigenetic DNA methylation between CVID patients with increased IEL (CVID_IEL; n = 5) without IEL (CVID_N; n = 3), celiac disease (n = 3) and healthy controls (n = 3).</p><p><strong>Results: </strong>The DNA methylation data of 5-methylcytosine in CpG sites separated CVID and celiac diseases from healthy controls. Differential methylation in promoters of genes were identified as potential novel mediators in CVID and celiac disease. There was limited overlap of methylation associated genes between CVID_IEL and Celiac disease. High frequency of differentially methylated CpG sites was detected in over 100 genes nearby transcription start site (TSS) in both CVID_IEL and celiac disease, compared to healthy controls. Differential methylation of genes involved in regulation of TNF/cytokine production were enriched in CVID_IEL, compared to healthy controls.</p><p><strong>Conclusion: </strong>This is the first study to reveal a role of epigenetic DNA methylation in the etiology of duodenal inflammation of CVID patients, distinguishing CVID_IEL from celiac disease. We identified potential biomarkers and therapeutic targets within gene promotors and in high-frequency differentially methylated CpG regions proximal to TSS in both CVID_IEL and celiac disease.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11116262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141081615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies. 一名自身炎症患者的新型 ELF4 基因帧移位变异:临床特征、转录组分析和功能研究。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-22 DOI: 10.1007/s10875-024-01732-7
Lina Sun, Ya'nan Han, Benchang Li, Ying Yang, Ying Fang, Xiaoxia Ren, Lu An, Xin Hou, Huafeng Fan, Yi Wu
{"title":"A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.","authors":"Lina Sun, Ya'nan Han, Benchang Li, Ying Yang, Ying Fang, Xiaoxia Ren, Lu An, Xin Hou, Huafeng Fan, Yi Wu","doi":"10.1007/s10875-024-01732-7","DOIUrl":"10.1007/s10875-024-01732-7","url":null,"abstract":"<p><p>We described the diagnosis and treatment of a patient with autoinflammatory disease, named \"Deficiency in ELF4, X-linked (DEX)\". A novel ELF4 variant was discovered and its pathogenic mechanism was elucidated. The data about clinical, laboratory and endoscopic features, treatment, and follow-up of a patient with DEX were analyzed. Whole exome sequencing and Sanger sequencing were performed to identify potential pathogenic variants. The mRNA and protein levels of ELF4 were analyzed by qPCR and Western blotting, respectively. The association of ELF4 frameshift variant with nonsense-mediated mRNA decay (NMD) in the pathogenesis DEX was examined. Moreover, RNA-seq was performed to identify the key molecular events triggered by ELF4 variant. The relationship between ELF4 and IFN-β activity was validated using a dual-luciferase reporter assay and a ChIP-qPCR assay. An 11-year-old boy presented with a Behçet's-like phenotype. The laboratory abnormality was the most obvious in elevated inflammatory indicators. Endoscopy revealed multiple ileocecal ulcers. Intestinal histopathology showed inflammatory cell infiltrations. The patient was treated with long-term immunosuppressant and TNF-α blocker (adalimumab), which reaped an excellent response over 16 months of follow-up. Genetic analysis identified a maternal hemizygote frameshift variant (c.1022del, p.Q341Rfs*30) in ELF4 gene in the proband. The novel variant decreased the mRNA level of ELF4 via the NMD pathway. Mechanistically, insufficient expression of ELF4 disturbed the immune system, leading to immunological disorders and pathogen susceptibility, and disrupted ELF4-activating IFN-β responses. This analysis detailed the clinical characteristics of a Chinese patient with DEX who harbored a novel ELF4 frameshift variant. For the first time, we used patient-derived cells and carried out transcriptomic analysis to delve into the mechanism of ELF4 variant in DEX.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency. 一名遗传性 IL-12Rβ1 缺乏症患者的沙门氏菌肺炎
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-22 DOI: 10.1007/s10875-024-01722-9
Marwa Chbihi, David Boutboul, Laureline Berteloot, Jean-Laurent Casanova, Jacinta Bustamante, Romain Lévy
{"title":"Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency.","authors":"Marwa Chbihi, David Boutboul, Laureline Berteloot, Jean-Laurent Casanova, Jacinta Bustamante, Romain Lévy","doi":"10.1007/s10875-024-01722-9","DOIUrl":"10.1007/s10875-024-01722-9","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity. 在亚洲先天性免疫错误患者中使用阿仑妥珠单抗进行异基因造血细胞移植。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-22 DOI: 10.1007/s10875-024-01734-5
Satoshi Miyamoto, Daiki Niizato, Dan Tomomasa, Akira Nishimura, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Shohei Azumi, Shinsuke Hirabayashi, Kenichi Sakamoto, Kenji Kishimoto, Takako Miyamura, Katsutsugu Umeda, Ayana Hirose, Dai Keino, Masakatsu Yanagimachi, Kaori Kanda, Yuta Sakai, Yasuhiro Ikawa, Kenichiro Watanabe, Keisuke Tanaka, Takehiko Mori, Tatsuo Ichinohe, Hirotoshi Sakaguchi, Tomohiro Morio, Hirokazu Kanegane
{"title":"Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity.","authors":"Satoshi Miyamoto, Daiki Niizato, Dan Tomomasa, Akira Nishimura, Akihiro Hoshino, Takahiro Kamiya, Takeshi Isoda, Masatoshi Takagi, Michiko Kajiwara, Shohei Azumi, Shinsuke Hirabayashi, Kenichi Sakamoto, Kenji Kishimoto, Takako Miyamura, Katsutsugu Umeda, Ayana Hirose, Dai Keino, Masakatsu Yanagimachi, Kaori Kanda, Yuta Sakai, Yasuhiro Ikawa, Kenichiro Watanabe, Keisuke Tanaka, Takehiko Mori, Tatsuo Ichinohe, Hirotoshi Sakaguchi, Tomohiro Morio, Hirokazu Kanegane","doi":"10.1007/s10875-024-01734-5","DOIUrl":"10.1007/s10875-024-01734-5","url":null,"abstract":"<p><p>Alemtuzumab is used with reduced-toxicity conditioning (RTC) in allogeneic hematopoietic cell transplantation (HCT), demonstrating efficacy and feasibility for patients with inborn errors of immunity (IEI) in Western countries; however, the clinical experience in Asian patients with IEI is limited. We retrospectively analyzed patients with IEI who underwent the first allogeneic HCT with alemtuzumab combined with RTC regimens in Japan. A total of 19 patients were included and followed up for a median of 18 months. The donors were haploidentical parents (n = 10), matched siblings (n = 2), and unrelated bone marrow donors (n = 7). Most patients received RTC regimens containing fludarabine and busulfan and were treated with 0.8 mg/kg alemtuzumab with intermediate timing. Eighteen patients survived and achieved stable engraftment, and no grade 3-4 acute graft-versus-host disease was observed. Viral infections were observed in 11 patients (58%) and 6 of them presented symptomatic. The median CD4<sup>+</sup> T cell count was low at 6 months (241/µL) but improved at 1 year (577/µL) after HCT. Whole blood cells continued to exhibit > 80% donor type in most cases; however, 3/10 patients exhibited poor donor chimerism only among T cells and also showed undetectable levels of T-cell receptor recombination excision circles (TRECs) at 1 year post-HCT. This study demonstrated the efficacy and safety of alemtuzumab; however, patients frequently developed viral infections and slow reconstitution or low donor chimerism in T cells, emphasizing the importance of monitoring viral status and T-cell-specific chimerism. (238 < 250 words).</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome. 1299 例唐氏综合征患者自然史研究中的免疫系统失调。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-22 DOI: 10.1007/s10875-024-01725-6
William Gansa, Joel M Correa Da Rosa, Kartikeya Menon, Christos Sazeides, O'Jay Stewart, Dusan Bogunovic
{"title":"Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome.","authors":"William Gansa, Joel M Correa Da Rosa, Kartikeya Menon, Christos Sazeides, O'Jay Stewart, Dusan Bogunovic","doi":"10.1007/s10875-024-01725-6","DOIUrl":"10.1007/s10875-024-01725-6","url":null,"abstract":"<p><p>Dysregulation of the immune system in individuals with Down syndrome is thought to play a major role in the pathophysiology of many clinical presentations. This natural history of disease study took a comprehensive evaluation of the prevalence of different immune related diagnoses in a cohort of 1299 patients with Down syndrome compared to a 2605 patient control cohort at the Mount Sinai Health System in New York, NY over the past 18 years. We conducted a stepwise analysis of the odds of receiving a diagnosis at the Chapter, Sub-chapter and Diagnosis level of the ICD-CM-10 code system. Individuals in our Down syndrome cohort had higher odds of a diagnosis with inflammatory and autoimmune presentations such as Alopecia areata (OR 6.06, p = 0.01), Other sepsis (OR 4.79, p < 0.001, Purpura and other hemorrhagic conditions (OR 2.31, p < 0.001), and Rosacea (OR 3.11, p < 0.001). They also presented with lower odds of a diagnosis of Herpesviral infection (OR 0.42, p = 0.01), and Viral warts (OR 0.51, p = 0.04). We posit that dysregulation of the immune system in individuals with Down syndrome has impact on infectious diseases, including lowering the incidence of viral disease and increasing its severity. Our data also suggests inflammation and autoimmune mediated diseases, in particular of the skin, are exacerbated in individuals with Down syndrome. Finally, there may be a need for greater clinical attention to non-emergent conditions within the Down syndrome patient population as those can also greatly affect quality of life.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections. 一种与 T 细胞功能障碍和复发性机会性感染有关的新型同卵 RHOH 变异。
IF 7.2 2区 医学
Journal of Clinical Immunology Pub Date : 2024-05-22 DOI: 10.1007/s10875-024-01735-4
Jingyu Zhou, Mengqing Qian, Ning Jiang, Jing Wu, Xiaoqian Feng, Meiping Yu, Qing Min, Haoxin Xu, Yixuan Yang, Qingluan Yang, Feiran Zhou, Lingyun Shao, Haoxiang Zhu, Yun Yang, Ji-Yang Wang, Qiaoling Ruan, Wenhong Zhang
{"title":"A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.","authors":"Jingyu Zhou, Mengqing Qian, Ning Jiang, Jing Wu, Xiaoqian Feng, Meiping Yu, Qing Min, Haoxin Xu, Yixuan Yang, Qingluan Yang, Feiran Zhou, Lingyun Shao, Haoxiang Zhu, Yun Yang, Ji-Yang Wang, Qiaoling Ruan, Wenhong Zhang","doi":"10.1007/s10875-024-01735-4","DOIUrl":"10.1007/s10875-024-01735-4","url":null,"abstract":"<p><p>RHOH, an atypical small GTPase predominantly expressed in hematopoietic cells, plays a vital role in immune function. A deficiency in RHOH has been linked to epidermodysplasia verruciformis, lung disease, Burkitt lymphoma and T cell defects. Here, we report a novel germline homozygous RHOH c.245G > A (p.Cys82Tyr) variant in a 21-year-old male suffering from recurrent, invasive, opportunistic infections affecting the lungs, eyes, and brain. His sister also succumbed to a lung infection during early adulthood. The patient exhibited a persistent decrease in CD4<sup>+</sup> T, B, and NK cell counts, and hypoimmunoglobulinemia. The patient's T cell showed impaired activation upon in vitro TCR stimulation. In Jurkat T cells transduced with RHOH<sup>C82Y</sup>, a similar reduction in activation marker CD69 up-regulation was observed. Furthermore, the C82Y variant showed reduced RHOH protein expression and impaired interaction with the TCR signaling molecule ZAP70. Together, these data suggest that the newly identified autosomal-recessive RHOH variant is associated with T cell dysfunction and recurrent opportunistic infections, functioning as a hypomorph by disrupting ZAP70-mediated TCR signaling.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":null,"pages":null},"PeriodicalIF":7.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141076142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信