Case Reports in Immunology最新文献_第3页

Immunotherapy in Metastatic Mucosal Melanoma with Disseminated Intravascular Coagulation: A Case of Success. 免疫治疗转移性粘膜黑色素瘤伴弥散性血管内凝血:一例成功。

IF 1

Case Reports in Immunology Pub Date : 2021-10-08 eCollection Date: 2021-01-01 DOI: 10.1155/2021/5516004

Helena Luna Pais, Paulo Luz, Soraia Lobo-Martins, André Mansinho, Rita Sousa, Rita Luís, Dolores Presa, Daniel Gomes, Luís Costa, Rita Teixeira de Sousa

{"title":"Immunotherapy in Metastatic Mucosal Melanoma with Disseminated Intravascular Coagulation: A Case of Success.","authors":"Helena Luna Pais, Paulo Luz, Soraia Lobo-Martins, André Mansinho, Rita Sousa, Rita Luís, Dolores Presa, Daniel Gomes, Luís Costa, Rita Teixeira de Sousa","doi":"10.1155/2021/5516004","DOIUrl":"https://doi.org/10.1155/2021/5516004","url":null,"abstract":"Mucosal melanoma accounts for 1% of all melanomas. It is more aggressive than cutaneous melanoma, and local excision provides the best disease-free survival. The vast majority of patients eventually develop metastases, with a metastatic pattern independent of the primary tumor site. While studies show that BRAF and KIT inhibitors have a role in the management of these patients, the actual treatment focus is on immunotherapy. Herein is described the case of a 79-year-old woman with metastatic mucosal melanoma and bone marrow infiltration causing disseminated intravascular coagulation, who was treated with an immunotherapy combination (anti-CTLA-4 and anti-PD-1 antibodies), achieving complete disease remission. This is the third case of melanoma with disseminated intravascular coagulation at presentation and the second case treated with immunotherapy in the literature, but the only one achieving disease remission.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2021 ","pages":"5516004"},"PeriodicalIF":1.0,"publicationDate":"2021-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39526327","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

Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases. 高度升高的IgE、特异反应性和严重感染:一种基于基因组学的疾病诊断方法。

IF 1

Case Reports in Immunology Pub Date : 2021-09-24 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2767012

A Chin, S Balasubramanyam, C M Davis

{"title":"Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.","authors":"A Chin, S Balasubramanyam, C M Davis","doi":"10.1155/2021/2767012","DOIUrl":"https://doi.org/10.1155/2021/2767012","url":null,"abstract":"Elevated IgE has been long recognized as an important clinical marker of atopy but can be seen in a myriad of conditions. The discovery of autosomal dominant STAT3 deficiency marked the first recognition of hyper-IgE syndrome (HIES) and the first primary immunodeficiency linked to elevated IgE. Since then, genomic testing has increased the number of defects with associated mutations causing hyper-IgE syndrome and atopic diseases with FLG, DOCK8, SPINK5, and CARD11, among others. A spectrum of recurrent infections and atopy are hallmarks of elevated IgE with significant phenotypic overlap between each underlying condition. As treatment is predicated on early diagnosis, genomic testing is becoming a more commonly used diagnostic tool. We present a 6-year-old male patient with markedly elevated IgE and severe atopic dermatitis presenting with staphylococcal bacteremia found to have a heterozygous variant in FLG (p.S3247X) and multiple variants of unknown significance in BCL11B, ZAP70, LYST, and PTPRC. We review the genetic defects underpinning elevated IgE and highlight the spectrum of atopy and immunodeficiency seen in patients with underlying mutations. Although no one mutation is completely causative of the constellation of symptoms in this patient, we suggest the synergism of these variants is an impetus of disease.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2021 ","pages":"2767012"},"PeriodicalIF":1.0,"publicationDate":"2021-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39482679","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

IF 1

Case Reports in Immunology Pub Date : 2021-09-18 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9260051

Caroline G Olson, Nancy Y Olson

{"title":"Hyper IgG4-Related Disease Presenting with Orbital Tumor and Immune Deficiency.","authors":"Caroline G Olson, Nancy Y Olson","doi":"10.1155/2021/9260051","DOIUrl":"10.1155/2021/9260051","url":null,"abstract":"We report a case of IgG4-RD in a patient with high IgG4 levels, low functional antibodies, and low IgM levels. He presented with bilateral orbital pseudotumors and, after initial improvement on corticosteroids, relapsed with recurrent pleural effusion and pelvic pseudotumor. He had a grossly elevated serum IgG (1905 mg/dl) with elevations in all IgG subclasses but marked elevation in IgG4 (412 mg/dl), low IgM, and low pneumococcal antibodies. Orbital mass biopsy showed polyclonal lymphocytic infiltration and increased IgG4 plasma cells. The patient was started on prednisone and tried several immunosuppressive medications including mycophenolate mofetil, methotrexate, hydroxychloroquine, and azathioprine with decrease in size of the orbital pseudotumor. During a period when the patient stopped his medications, the pseudotumor enlarged with new development of recurrent pleural effusions. He was also found to have a pelvic mass that was biopsy positive for IgG4 proliferation. This case with progression to multiorgan involvement highlights the importance of identifying patients with IgG4-related disease. In contrast to previous cases with normal-to-high IgM, the IgM was low with impaired functional antibodies.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2021 ","pages":"9260051"},"PeriodicalIF":1.0,"publicationDate":"2021-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39470440","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

A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies. 抗磷脂抗体阳性科恩综合征患者VPS13B基因的新突变

IF 1

Case Reports in Immunology Pub Date : 2021-08-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/3143609

Roghayeh Dehghan, Mahdiyeh Behnam, Alireza Moafi, Mansoor Salehi

引用次数: 2

Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome. 低温蛋白相关周期综合征患者NLRP3基因全外显子组测序新变异的鉴定

IF 1

Case Reports in Immunology Pub Date : 2021-08-16 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2023119

Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

引用次数: 3

Gastric Adenocarcinoma in the Setting of IPEX Syndrome. IPEX综合征背景下的胃腺癌。

IF 1

Case Reports in Immunology Pub Date : 2021-06-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9967198

David Steffin, Saleh Bhar, Douglas S Fishman, Nicholas L Rider, Bindi Naik-Mathuria, Caridad Martinez, Rajkumar Venkatramani

引用次数: 2

IF 1

Case Reports in Immunology Pub Date : 2021-06-19 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6587323

Moriah Forster, Timothy Moran, Anne Beaven, Timothy Voorhees

引用次数: 2

Can Heparin-Coated ECMO Cannulas Induce Thrombocytopenia in COVID-19 Patients? 肝素包被ECMO套管能诱导COVID-19患者血小板减少吗?

IF 1

Case Reports in Immunology Pub Date : 2021-06-04 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6624682

Barbara Steinlechner, Gabriele Kargl, Christine Schlömmer, Caroline Holaubek, Georg Scheriau, Sabine Eichinger, Johannes Gratz, Bernhard Rössler

引用次数: 6

Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma. 原发性选择性IgM缺乏的胶原性胃炎:向EBV+胃腺癌的转变。

IF 1

Case Reports in Immunology Pub Date : 2021-05-25 eCollection Date: 2021-01-01 DOI: 10.1155/2021/5574944

Tejal Narsai, Houfen Su, David Braxton, Sudhir Gupta

{"title":"Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma.","authors":"Tejal Narsai, Houfen Su, David Braxton, Sudhir Gupta","doi":"10.1155/2021/5574944","DOIUrl":"https://doi.org/10.1155/2021/5574944","url":null,"abstract":"Selective IgM deficiency (SIgMD) and isolated collagenous gastritis are two independent rare disorders. Our purpose is to report the 1st case of SIgMD and isolated collagenous gastritis and collagenous gastritis that has transitioned to EBV + gastric adenocarcinoma. Gastric biopsy tissue was analyzed by EBV-related encoded RNA in situ hybridization assay. Subsets of CD4, CD8, T follicular helper cells (TFH), and members of the \"regulatory lymphocytes club\" were measured with multiple panels of monoclonal antibodies and isotype controls by multicolor flow cytometry. The patient was diagnosed with SIgMD (extremely low serum IgM 9 mg/dl and normal IgG and IgA and exclusion of secondary causes of low IgM). Soon after SIgMD diagnosis, the patient developed collagenous gastritis and, 8 years later, developed gastric adenocarcinoma that was positive for EBV. An extensive immunological analysis revealed reduced naïve CD4 and CD8 effector memory T cells and increased naïve and central memory CD8 T cells. Among the circulating follicular helper T cells (cTFH), TFH1 and TFH2 were increased whereas TFH17 was decreased. CD4 Treg cells and TFR cells were increased, whereas Breg and CD8 Treg were comparable to control. In conclusion, SIgMD may be associated with isolated collagenous gastritis, and collagenous gastritis may transition to EBV + gastric adenocarcinoma. A role of regulatory lymphocytes in gastric cancer is discussed.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2021 ","pages":"5574944"},"PeriodicalIF":1.0,"publicationDate":"2021-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39090601","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

Henoch-Schönlein Purpura Associated with Lung Cancer: When Paraneoplastic Manifestations Impede Oncological Management. Henoch-Schönlein紫癜与肺癌:当副肿瘤表现阻碍肿瘤治疗。

IF 1

Case Reports in Immunology Pub Date : 2021-02-06 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8847017

Éloïse Philippe, Aude Barnier, Juliette Menguy, Gilles Robinet, Gilles Quéré, Francis Couturaud, Renaud Descourt

引用次数: 1