Case Reports in Immunology最新文献_第6页

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

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

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, Bjørn Christer Grønvold, Else Marit Inderberg, Nadia Mensali, Jonas Mattsson, Tobias Gedde-Dahl","doi":"10.1155/2020/9403123","DOIUrl":"https://doi.org/10.1155/2020/9403123","url":null,"abstract":"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.","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

引用次数: 2

Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation. 原发性免疫缺陷伴严重多器官免疫失调。

IF 1

Case Reports in Immunology Pub Date : 2019-12-28 eCollection Date: 2019-01-01 DOI: 10.1155/2019/8746249

Tatyana Gavrilova

引用次数: 1

Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition? 免疫血小板减少患者服用利妥昔单抗后3年致死性低丙种球蛋白血症:潜在的遗传易感性?

IF 1

Case Reports in Immunology Pub Date : 2019-12-28 eCollection Date: 2019-01-01 DOI: 10.1155/2019/2543038

Jean-François Viallard, Marie Parrens, Frédéric Rieux-Laucat

{"title":"Fatal Hypogammaglobulinemia 3 Years after Rituximab in a Patient with Immune Thrombocytopenia: An Underlying Genetic Predisposition?","authors":"Jean-François Viallard, Marie Parrens, Frédéric Rieux-Laucat","doi":"10.1155/2019/2543038","DOIUrl":"https://doi.org/10.1155/2019/2543038","url":null,"abstract":"We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein-Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency-associated genes (FAS-ligand (FASL) gene (p.G167R); perforin-1 (PRF1 (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (BLM) gene and the Moesin (MSN) (p.A122T) gene). The heterozygous mutation in the FASL gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient's immunodepression is discussed. This observation strengthens the role of FASL gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people in a context of immunodeficiency.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"2543038"},"PeriodicalIF":1.0,"publicationDate":"2019-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/2543038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37557943","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: 6

Sirolimus for the Treatment of Airway Obstruction due to Indolent T-Lymphoblastic Proliferation. 西罗莫司治疗惰性t淋巴细胞增殖引起的气道阻塞。

IF 1

Case Reports in Immunology Pub Date : 2019-12-09 eCollection Date: 2019-01-01 DOI: 10.1155/2019/1724083

Eric Moughames, Ana P Kiess, Lee M Akst, Antoine Azar

{"title":"Sirolimus for the Treatment of Airway Obstruction due to Indolent T-Lymphoblastic Proliferation.","authors":"Eric Moughames, Ana P Kiess, Lee M Akst, Antoine Azar","doi":"10.1155/2019/1724083","DOIUrl":"https://doi.org/10.1155/2019/1724083","url":null,"abstract":"Introduction: Indolent T-lymphoblastic proliferation (iT-LBP) is a rare nonmalignant entity that presents as a proliferation of T-lymphoblasts. We report a first such case with a recurrent laryngeal obstruction presentation that was successfully controlled with Sirolimus.Case presentation: This is the case of a 29-year-old female who presented with a recurrent significant lymphoid hyperplasia in the adenoid and tongue base region as well as a right cervical lymph node. After repeated adenoidectomies and tonsillectomies, and based on pathological and clinical findings she was diagnosed with iT-LBP. Trials of radiotherapy and immunotherapy with cyclosporine and rituximab all failed to control the progression of the disease. Sirolimus was finally able to restrict the growth and improve her symptoms.Conclusion: While It-LBP does not usually require treatment, it is important to report cases in which treatment was crucial for the survival of the patient, and the effective role of Sirolimus in doing so, without any major adverse effects.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"1724083"},"PeriodicalIF":1.0,"publicationDate":"2019-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/1724083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37574505","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: 3

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 0.7

Case Reports in Immunology Pub Date : 2019-10-13 eCollection 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, Maha E Houssen, Ania Manson, Lorena Lorenzo, Mark A Russell, Noel G Morgan, Fariba Tahami, Sofia Grigoriadou","doi":"10.1155/2019/1869524","DOIUrl":"10.1155/2019/1869524","url":null,"abstract":"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 STAT3. Within the first years of life she developed multiple, Staphylococcus aureus 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 STAT3 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.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2019 ","pages":"1869524"},"PeriodicalIF":0.7,"publicationDate":"2019-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815622/pdf/","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: 0

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

引用次数: 10