Case Reports in Immunology最新文献

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The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor. x连锁淋巴增生性疾病(XLP1)的自然史:来自长期幸存者的经验教训。
IF 1
Case Reports in Immunology Pub Date : 2020-08-26 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8841571
Yike Jiang, Mihail Firan, Sarada L Nandiwada, Anaid Reyes, Rebecca A Marsh, Tiphanie P Vogel, Joud Hajjar
{"title":"The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor.","authors":"Yike Jiang,&nbsp;Mihail Firan,&nbsp;Sarada L Nandiwada,&nbsp;Anaid Reyes,&nbsp;Rebecca A Marsh,&nbsp;Tiphanie P Vogel,&nbsp;Joud Hajjar","doi":"10.1155/2020/8841571","DOIUrl":"https://doi.org/10.1155/2020/8841571","url":null,"abstract":"<p><p>X-linked lymphoproliferative disease (XLP1) is a rare primary immunodeficiency characterized by EBV-triggered immune dysregulation, lymphoproliferation, dysgammaglobulinemia, and lymphoma. Early childhood mortality from overwhelming inflammation is expected in most patients. The only curative therapy is hematopoietic stem cell transplant (HSCT); however, whether to perform HSCT on an asymptomatic patient remains debatable. This uncertainty arises because the natural history of XLP1 patients without transplantation is not clear. In this case report, we present the natural history of XLP1 in a 43-year-old male patient who did not receive HSCT. We also review the literature on untransplanted XLP1 patients who lived into mid-adulthood. Despite surviving childhood presentations that are typically fatal, we found that these rare patients remain susceptible to manifestations of XLP1 decades later.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8841571"},"PeriodicalIF":1.0,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8841571","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362961","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: 4
The Terrible Triad of Checkpoint Inhibition: A Case Report of Myasthenia Gravis, Myocarditis, and Myositis Induced by Cemiplimab in a Patient with Metastatic Cutaneous Squamous Cell Carcinoma. 检查点抑制的可怕三合一:1例转移性皮肤鳞状细胞癌患者由西米单抗诱发重症肌无力、心肌炎和肌炎的报告。
IF 1
Case Reports in Immunology Pub Date : 2020-07-04 eCollection Date: 2020-01-01 DOI: 10.1155/2020/5126717
Nikeshan Jeyakumar, Mikel Etchegaray, Jason Henry, Laura Lelenwa, Bihong Zhao, Ana Segura, L Maximilian Buja
{"title":"The Terrible Triad of Checkpoint Inhibition: A Case Report of Myasthenia Gravis, Myocarditis, and Myositis Induced by Cemiplimab in a Patient with Metastatic Cutaneous Squamous Cell Carcinoma.","authors":"Nikeshan Jeyakumar,&nbsp;Mikel Etchegaray,&nbsp;Jason Henry,&nbsp;Laura Lelenwa,&nbsp;Bihong Zhao,&nbsp;Ana Segura,&nbsp;L Maximilian Buja","doi":"10.1155/2020/5126717","DOIUrl":"https://doi.org/10.1155/2020/5126717","url":null,"abstract":"<p><strong>Background: </strong>We report a case of a patient with squamous cell carcinoma (SCC) who developed myasthenia gravis (MG), myositis, and myocarditis after receiving cemiplimab, an anti-PD-1 immune checkpoint inhibitor (ICI). <i>Case Presentation.</i> An 86-year-old man with metastatic periocular SCC presented with decreased vision in the left eye, severe fatigue, and lower back and bilateral hip pain 3 weeks after receiving cemiplimab. Within hours, he developed dysphonia, pharyngeal secretions, and dysphagia, necessitating intubation. Endomyocardial biopsy revealed active lymphocyte-mediated necrosis consistent with ICI-induced myocarditis. Anti-striated muscle and anti-acetylcholine receptor antibodies were elevated, consistent with myositis and myasthenia gravis. Despite plasma exchange therapy, steroids, and intravenous immunoglobulin, he died from cardiac arrest.</p><p><strong>Conclusions: </strong>The presence of myasthenia gravis, myocarditis, or myositis should prompt evaluation for all three toxicities as they may represent an overlap syndrome. The severity of these immunotoxicities highlights the need for clinicians to suspect multiple simultaneous adverse effects of ICIs.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"5126717"},"PeriodicalIF":1.0,"publicationDate":"2020-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/5126717","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38179180","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: 33
Injection Site Erythema in a Patient on Therapeutic Anticoagulation with Low Molecular Weight Heparin after Mechanical Aortic Valve Replacement: A Rare Presentation of Heparin- and Protamine-Induced Thrombocytopenia. 机械性主动脉瓣置换术后使用低分子肝素抗凝治疗的患者出现注射部位红斑:肝素和蛋白蛋白引起的罕见血小板减少症。
IF 1
Case Reports in Immunology Pub Date : 2020-04-10 eCollection Date: 2020-01-01 DOI: 10.1155/2020/4503598
Caroline Holaubek, Paul Simon, Sabine Eichinger-Hasenauer, Franz Gremmel, Barbara Steinlechner
{"title":"Injection Site Erythema in a Patient on Therapeutic Anticoagulation with Low Molecular Weight Heparin after Mechanical Aortic Valve Replacement: A Rare Presentation of Heparin- and Protamine-Induced Thrombocytopenia.","authors":"Caroline Holaubek,&nbsp;Paul Simon,&nbsp;Sabine Eichinger-Hasenauer,&nbsp;Franz Gremmel,&nbsp;Barbara Steinlechner","doi":"10.1155/2020/4503598","DOIUrl":"https://doi.org/10.1155/2020/4503598","url":null,"abstract":"<p><p>Previous exposition to heparin and protamine in patients undergoing cardiopulmonary bypass and postoperative therapeutic anticoagulation with LMWH may lead to the development of heparin-induced thrombocytopenia (HIT) and/or protamine-induced thrombocytopenia (PIT). This case deals with a rare clinical presentation of circulating IgG antibodies against heparin/platelet factor 4 complexes and heparin/protamine complexes after cardiac surgery. Ensuing purpura and skin necrosis (blisters) at the injection sites of LMWH and clinical symptoms improved rapidly after replacement of LMWH by an alternative anticoagulant. The aim of this report is to draw attention to the several different clinical manifestations of heparin- and/or protamine-induced thrombocytopenia and shows a possible course of treatment and recovery.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"4503598"},"PeriodicalIF":1.0,"publicationDate":"2020-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/4503598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37867067","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: 1
A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings. 来自埃塞俄比亚的首例迪乔治综合征病例报告强调了在低资源环境中识别和治疗原发性t细胞缺陷儿童的挑战。
IF 1
Case Reports in Immunology Pub Date : 2020-02-26 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8157212
Tinsae Alemayehu, Solomie Jebessa Deribessa
{"title":"A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings.","authors":"Tinsae Alemayehu,&nbsp;Solomie Jebessa Deribessa","doi":"10.1155/2020/8157212","DOIUrl":"https://doi.org/10.1155/2020/8157212","url":null,"abstract":"<p><strong>Background: </strong>Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency. The disorder is characterized by hypoplastic or aplastic thymus, hypocalcemia, recurrent infections, and other associated congenital defects. <i>Case Report</i>. We report an eleven-month-old infant presenting with recurrent chest and diarrheal infections, failure to thrive, lymphopenia, hypocalcemia, and hypoplastic thymus on imaging. A diagnosis of DiGeorge syndrome was confirmed after determining very low CD3 and CD4 levels.</p><p><strong>Conclusions: </strong>We describe the first case report of an Ethiopian child with a congenital T-cell immunodeficiency. We have outlined essentials for diagnosis and management of cellular primary immunodeficiency disorders in low resource settings.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8157212"},"PeriodicalIF":1.0,"publicationDate":"2020-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8157212","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37726337","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
Posttransplantation Lymphoproliferative Disease Treated by Retransplantation. 再移植治疗移植后淋巴细胞增生性疾病。
IF 1
Case Reports in Immunology Pub Date : 2020-02-25 eCollection Date: 2020-01-01 DOI: 10.1155/2020/9403123
Ingerid Weum Abrahamsen, Bjørn Christer Grønvold, Else Marit Inderberg, Nadia Mensali, Jonas Mattsson, Tobias Gedde-Dahl
{"title":"Posttransplantation Lymphoproliferative Disease Treated by Retransplantation.","authors":"Ingerid Weum Abrahamsen,&nbsp;Bjørn Christer Grønvold,&nbsp;Else Marit Inderberg,&nbsp;Nadia Mensali,&nbsp;Jonas Mattsson,&nbsp;Tobias Gedde-Dahl","doi":"10.1155/2020/9403123","DOIUrl":"https://doi.org/10.1155/2020/9403123","url":null,"abstract":"<p><p>Epstein-Barr virus- (EBV-) induced posttransplantation lymphoproliferative disease (PTLD) is a life-threatening complication following allogeneic stem cell transplantation. The main risk factor is anti-thymocyte globulin (ATG). Patients who fail first-line treatment with rituximab have a poor prognosis. Though adoptive transfer of EBV-specific T cells is a potentially effective option, it is not readily available. In this case report, the patient developed PTLD following transplantation for aplastic anemia using ATG as part of the conditioning. He failed rituximab treatment and developed graft failure. We were aware that the stem cell donor had a recent EBV infection prior to transplantation, whereas the patient most likely was EBV negative before transplant. We describe our strategy to meet the patient's urgent need for EBV-specific T cells, as well as new hematopoietic stem cells. The same donor was used for a second transplant, using peripheral blood stem cells. The conditioning used was thiotepa/busulfan/fludarabin with a single dose of cyclophosphamide after transplant as graft-versus-host disease (GVHD) prophylaxis. The EBV DNA levels fell when conditioning was started, and have been undetectable since day +15 and remained so till 18 months after transplantation. The patient is doing well. This case reports successful use of cyclophosphamide after transplantation as GVHD prophylaxis, preserving virus-specific immunity.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"9403123"},"PeriodicalIF":1.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/9403123","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37726338","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: 1
Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies. 抗gad抗体患者小脑性共济失调并发僵硬人综合征。
IF 1
Case Reports in Immunology Pub Date : 2020-02-08 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8454532
Sinali O Seneviratne, Katherine A Buzzard, Belinda Cruse, Mastura Monif
{"title":"Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies.","authors":"Sinali O Seneviratne,&nbsp;Katherine A Buzzard,&nbsp;Belinda Cruse,&nbsp;Mastura Monif","doi":"10.1155/2020/8454532","DOIUrl":"https://doi.org/10.1155/2020/8454532","url":null,"abstract":"<p><p>Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present a case of a young woman with anti-GAD antibodies who initially presented with cerebellar ataxia followed by stiff person syndrome three and a half years later. Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. We emphasise the importance of long-term follow-up of patients with anti-GAD antibody syndrome, as delayed neurological manifestations can occur.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2020 ","pages":"8454532"},"PeriodicalIF":1.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8454532","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37670579","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: 2
Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy 白细胞介素-1受体拮抗剂缺乏:1例迟发性严重炎性关节炎,甲银屑病伴甲真菌病,对阿达木单抗治疗反应良好
IF 1
Case Reports in Immunology Pub Date : 2019-08-04 DOI: 10.1155/2019/1902817
N. Kutukculer, A. Puel, S. Eren Akarcan, K. Moriya, N. Edeer Karaca, M. Migaud, J. Casanova, G. Aksu
{"title":"Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy","authors":"N. Kutukculer, A. Puel, S. Eren Akarcan, K. Moriya, N. Edeer Karaca, M. Migaud, J. Casanova, G. Aksu","doi":"10.1155/2019/1902817","DOIUrl":"https://doi.org/10.1155/2019/1902817","url":null,"abstract":"DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, we reported a patient with a novel mutation in IL1RN with a healthy neonatal period, a late-onset of pustular dermatosis, inflammatory arthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome, carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with the inflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The case responded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead to death from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologic agents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatric rheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"40 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2019-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77691644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome Omalizumab对il -21诱导的高ige综合征低stat3磷酸化的部分和短暂临床反应
IF 1
Case Reports in Immunology Pub Date : 2019-07-04 DOI: 10.1155/2019/6357256
C. D. Alonso-Bello, M. Jiménez-Martínez, M. E. Vargas-Camaño, S. Hierro-Orozco, M. Ynga-Durand, L. Berrón-Ruiz, J. C. Alcántara-Montiel, L. Santos‐Argumedo, Diana Andrea Herrera-Sánchez, Fernando Lozano-Patiño, María Isabel Castrejón-Vázquez
{"title":"Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome","authors":"C. D. Alonso-Bello, M. Jiménez-Martínez, M. E. Vargas-Camaño, S. Hierro-Orozco, M. Ynga-Durand, L. Berrón-Ruiz, J. C. Alcántara-Montiel, L. Santos‐Argumedo, Diana Andrea Herrera-Sánchez, Fernando Lozano-Patiño, María Isabel Castrejón-Vázquez","doi":"10.1155/2019/6357256","DOIUrl":"https://doi.org/10.1155/2019/6357256","url":null,"abstract":"Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated levels of immunoglobulin E (IgE), eczematous dermatitis, cold abscesses, and recurrent infections of the lung and skin caused by Staphylococcus aureus. The dominant form is characterized by nonimmunologic features including skeletal, connective tissue, and pulmonary abnormalities in addition to recurrent infections and eczema. Omalizumab is a humanized recombinant monoclonal antibody against IgE. Several studies reported clinical improvement with omalizumab in patients with severe atopic eczema with high serum IgE level. We present the case of a 37-year-old male with HIES and cutaneous manifestations, treated with humanized recombinant monoclonal antibodies efalizumab and omalizumab. After therapy for 4 years, we observed diminished eczema and serum IgE levels.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"17 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2019-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78665489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
IgG4-Related Sclerosing Disease Causing Spinal Cord Compression: The First Reported Case in Literature igg4相关的硬化性疾病引起脊髓压迫:文献中首次报道的病例
IF 1
Case Reports in Immunology Pub Date : 2019-06-18 DOI: 10.1155/2019/3618510
Nooraldin Merza, A. Taha, J. Lung, Anthony W. Benderman, S. Wright
{"title":"IgG4-Related Sclerosing Disease Causing Spinal Cord Compression: The First Reported Case in Literature","authors":"Nooraldin Merza, A. Taha, J. Lung, Anthony W. Benderman, S. Wright","doi":"10.1155/2019/3618510","DOIUrl":"https://doi.org/10.1155/2019/3618510","url":null,"abstract":"Immunoglobulin G4-related disease (IgG4-RD) is known for forming soft tissue mass lesions that may have compressive effects. It is an extremely rare disease that most frequently affects the pancreas causing autoimmune pancreatitis. It can also affect the gallbladder, salivary glands, and lacrimal glands causing respective organ-specific complications. In our report, we describe an IgG4-RD case that affected the spinal cord. A 60-year-old female presented with cervical spinal cord compression caused by IgG4-RD leading to several neurological deficits. Pathological examination of the excisional biopsy of the mass revealed dense lymphoplasmacytic cells infiltration and stromal fibrosis with IgG4 and plasma cells. The patient showed a dramatic response to the administration of systemic steroids with almost resolution of her neurological symptoms. This case highlights the first case in literature for IgG4-RD of the extradural tissue causing spinal compression. Hereby, we also demonstrate the dramatic response of IgG4-RD to the administration of systemic steroids as the patient had no recurrence after 5 years of close follow-up, the longest reported period of follow-up reported in the literature to date.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"6 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2019-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82534311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity. STAT3突变导致高IgE综合征导致转录活性抑制的证据。
IF 1
Case Reports in Immunology Pub Date : 2019-01-01 DOI: 10.1155/2019/1869524
Sameer Bahal, Maha E Houssen, Ania Manson, Lorena Lorenzo, Mark A Russell, Noel G Morgan, Fariba Tahami, Sofia Grigoriadou
{"title":"Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity.","authors":"Sameer Bahal,&nbsp;Maha E Houssen,&nbsp;Ania Manson,&nbsp;Lorena Lorenzo,&nbsp;Mark A Russell,&nbsp;Noel G Morgan,&nbsp;Fariba Tahami,&nbsp;Sofia Grigoriadou","doi":"10.1155/2019/1869524","DOIUrl":"https://doi.org/10.1155/2019/1869524","url":null,"abstract":"<p><p>We present the case of a 19-year-old female with a mild form of Autosomal Dominant Hyper IgE syndrome (HIES) associated with a loss-of-function mutation in <i>STAT3</i>. Within the first years of life she developed multiple, <i>Staphylococcus aureus</i> associated abscesses in the neck and face requiring frequent incision and drainage. Respiratory tract infections were not a feature of the clinical phenotype and a high resolution thoracic CT scan was unremarkable. Retained dentition was noted but fungal nail disease and recurrent thrush were absent. The total IgE was 970 IU/L, Lymphocyte counts and immunoglobulin levels were normal (IgG borderline 18.5 gr/L). There was suboptimal response to test immunisation with Pneumovax II vaccine. Th17 cell phenotyping revealed low levels of IL-17 expressing cells (0.3% of total CD4 T Cells numbers). Genetic analysis identified a missense mutation, N567D, in a conserved region of the linker domain of STAT3. Functional studies in HEK293 cells reveal that this mutation potently inhibits STAT3 activity when compared to the wildtype protein. This is consistent with other reported mutations in <i>STAT3</i> associated with HIES. However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2019 ","pages":"1869524"},"PeriodicalIF":1.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1869524","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9199432","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: 1
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