Case Reports in Immunology最新文献

{"title":"Adult-Onset Still's Disease with Dermatopathic Lymphadenitis Clinicopathologic Features: A Rare Case Report and Review of the Literature","authors":"Reda Elhawary, M. Nadeem, M. Abdelwahed, Mansour Somaily, Shahenda Y. Alemam","doi":"10.1155/2022/1653683","DOIUrl":"https://doi.org/10.1155/2022/1653683","url":null,"abstract":"Adult-onset Still's disease (AOSD) is an inflammatory disorder characterized by fever, arthritis, and a transient skin rash. It is a rare condition characterized by inflammatory multisystem changes of unknown cause. A 35-year-old woman was admitted to rheumatology department of tertiary care hospital complaining of painful wrist and skin rash as well as fever, generalized lymphadenopathy, weight loss, and fatigue. The early diagnosis of AOSD was confirmed by clinical history, examination, and laboratory tests, as well as a confirmatory skin biopsy with typical histopathological features, namely, upper epidermal dyskeratosis and dermal inflammatory neutrophilic infiltration. The patient's condition was treated with steroids and NSAIDs, to which she responded well, and on follow-up, her symptoms regressed along with improvement in biochemical parameters. The authors suggest that skin biopsy and confirmation of histopathological diagnosis of AOSD are useful in the diagnosis and proper management of AOSD patients in cases with clinical suspicion of AOSD.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76666801","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}

{"title":"Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis","authors":"F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers","doi":"10.1155/2022/9057000","DOIUrl":"https://doi.org/10.1155/2022/9057000","url":null,"abstract":"The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis of the target cell. Late complement deficiencies (LCDs) are typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). However, IMD can also be a first manifestation in adulthood and should prompt for the evaluation of the LCD. We report the case of a young adult with IMD who was found to have a LCD, caused by a compound heterozygous mutation in C6. His vaccination status was optimized and prophylactic antibiotic treatment was initiated. By means of this case, we would like to raise awareness of underlying LCD in (young) adults presenting with IMD by N. meningitidis. Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. In addition, we discuss the diagnosis and treatment of LCD.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85003434","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}

{"title":"A Case of Anti-SAE1 Dermatomyositis","authors":"Max de Vries, M. Schreurs, Els J. M. Ahsmann, Marcela Spee-Dropková, Faiz Karim","doi":"10.1155/2022/9000608","DOIUrl":"https://doi.org/10.1155/2022/9000608","url":null,"abstract":"Introduction Anti-SAE1 antibodies have a low prevalence in dermatomyositis patients. Case Description. A 61-year-old woman presented with progressive shortness of breath, arthralgia, heliotrope rash, Gottron's papules, and erythematous rash. She had an interstitial lung disease (ILD) with a significant decrease in lung function. There was no muscle involvement. Immunological laboratory test results showed strongly positive anti-SAE1 antibodies. Glucocorticoid treatment resulted in remission of dermatomyositis. Conclusion Anti-SAE antibodies in dermatomyositis patients are closely linked to unique clinical features.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72636527","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}

{"title":"Novel <i>MAGT1</i> Mutation Found in the First Chinese XMEN in Hong Kong.","authors":"Elaine Yuen Ling Au,&nbsp;Edmund Kwok Kwan Tung,&nbsp;Ricky Wai Ki Ip,&nbsp;Philip Hei Li","doi":"10.1155/2022/2390167","DOIUrl":"https://doi.org/10.1155/2022/2390167","url":null,"abstract":"<p><p>The availability of next-generation sequencing (NGS) helps to resolve many of the diagnostic odysseys. Common variable immunodeficiency disease (CVID) is an entity encompassing a heterogenous group of conditions with hypogammaglobulinemia, and it is a diagnosis of exclusion. In recent years, with the advances of molecular diagnostics, more and more patients have been reclassified with more defined entities after their genetic causes were found. Here, we reported a young man, who was managed as CVID since childhood, presenting with recurrent infection, hypogammaglobulinemia, and immune thrombocytopenia (ITP). Finally, more than a decade after initial presentation, gene panel testing revealed a novel mutation in the MAGT1 gene. Collectively, the genetic findings and clinical presentations confirm the diagnosis of X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia (XMEN). MAGT1 is an evolutionarily conserved, magnesium-specific transporter expressed in all mammalian cells that plays an essential role in magnesium homeostasis. MAGT1 also acts as an accessory protein for STT3B, as catalytic subunits of the oligosaccharyltransferase protein complex, which carries out glycan chain transfer to proteins in the endoplasmic reticulum during N-glycosylation. Glycans play an essential role in the stability, maturation, and localization in glycoproteins that are important in our immune cells' function. Mutation of the gene resulted in a rare X-linked recessive condition XMEN. The disease has complete penetrance but variable expressivity. It is mainly associated with immunodeficiency, immunodysregulation, and predisposition to EBV-associated lymphoproliferation. Extraimmune manifestations have also been reported in some patient cohorts, including hepatic and neurological abnormalities. Overall, the presentation varies among patients and overlaps with other clinical entities, in which diagnosis is challenging. Before the era of NGS, traditional workup hinges heavily on phenotype studies, followed by single-gene sequencing. The diagnostic yield is low, and a significant delay in diagnosis is common. This case illustrated the importance of early consideration of molecular studies in complex immunological cases without obvious secondary causes as an integral part of patient management.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39659259","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}

{"title":"Pulmonary Alveolar Proteinosis Refractory to Plasmapheresis and Rituximab despite GM-CSF Antibody Reduction.","authors":"Aysenur Keske,&nbsp;Eric M Destrampe,&nbsp;Byron Barksdale,&nbsp;William N Rose","doi":"10.1155/2022/2104270","DOIUrl":"https://doi.org/10.1155/2022/2104270","url":null,"abstract":"<p><p>We share our experience of a patient with pulmonary alveolar proteinosis who was refractory to plasmapheresis and rituximab despite a significant reduction in the offending antibody. He presented with shortness of breath, fevers, chills, and sweats for 4 months. He was diagnosed with autoimmune PAP based on typical radiology findings, bronchoalveolar fluid analysis, and elevated anti-GM-CSF levels. Given his limited improvement with whole lung lavage and inhaled GM-CSF therapy, he underwent two series of plasmapheresis. Series one was 5 procedures in 6 days, and series two was 5 procedures in 9 days followed by rituximab. These did not appear to provide any lasting clinical benefit in the year after plasmapheresis despite a marked decrease in serum anti-GM-CSF levels. However, about a year after plasmapheresis, he went into remission and has not required any treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39609485","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}

{"title":"Immune Checkpoint Inhibitor-Induced Limbic Encephalitis during Treatment with Atezolizumab in a Patient with Small-Cell Lung Cancer: A Case Report and Review of the Literature.","authors":"Koki Nakashima,&nbsp;Yoshiki Demura,&nbsp;Kosuke Kurokawa,&nbsp;Toshihiro Takeda,&nbsp;Norihiro Jikuya,&nbsp;Masahiro Oi,&nbsp;Toshihiko Tada,&nbsp;Masaya Akai,&nbsp;Tamotsu Ishizuka","doi":"10.1155/2022/9290922","DOIUrl":"https://doi.org/10.1155/2022/9290922","url":null,"abstract":"<p><p>Paraneoplastic neurological syndrome (PNS) is associated with malignancies, including small-cell lung cancer. Recently, PNS cases among patients with small-cell lung cancer (SCLC) induced by immune checkpoint inhibitors have increased. We herein report a 66-year-old man with SCLC who developed disorientation, dysphagia, and gait disturbance after three courses of treatment with atezolizumab. Brain magnetic resonance imaging revealed a high-intensity area in the bilateral temporal lobes. Blood test results were positive for anti-Hu and anti-Zic4 antibodies, which led to the diagnosis of limbic encephalitis as PNS. Some symptoms improved with intravenous administration of steroids and immunoglobulins.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8758326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39825672","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}

{"title":"Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil.","authors":"Sérgio Júlio Fernandes,&nbsp;Maria Isabel Valdomir Nadaf,&nbsp;Nauro Hudson Monteiro,&nbsp;Izabel Nazira Nadaf,&nbsp;Cleiton Ribeiro Lélis,&nbsp;Bianca Yumi Takano,&nbsp;Bárbarah Gabriella de Camargo Monteiro,&nbsp;Nyvea Gabriella de Camargo Monteiro,&nbsp;Olga Akiko Takano,&nbsp;Leonardo Oliveira Mendonça","doi":"10.1155/2021/6660937","DOIUrl":"https://doi.org/10.1155/2021/6660937","url":null,"abstract":"<p><strong>Background: </strong>PAPA syndrome (MIM #604416) is a rare monogenic autoinflammatory disease genetically transmitted in an autosomal dominant trait that results from missense mutations in the proline-serine-threonine phosphatase-interactive protein 1 (PSTPIP1) gene located on chromosome 15 and is characterized by sterile pyogenic arthritis, pyoderma gangrenosum, and cystic acne. We describe the clinical and molecular findings of two related Brazilian patients with PAPA syndrome. <i>Case Presentation</i>. A 7-year-and-3-month-old boy with nonconsanguineous parents had had recurrent pyoarthritis since the age of 5 years and 8 months. During his last and long hospitalization, the lack of improvement with antibiotics, evidence of increased inflammatory activity, repeated arthrotomies, draining purulent fluid that had negative cultures, and the history of trauma, all on in a clinical background of pyoarthritis, led to the suspicion of an autoinflammatory syndrome. This was confirmed by the good clinical response to corticotherapy. Genetic sequencing confirmed the diagnosis of PAPA syndrome, with the pathogenic mutation c.688 G > <i>A</i> (p. Ala230Thr) in the PSTPIP1 gene present in the patient and in the mother.</p><p><strong>Conclusions: </strong>This case illustrates that in children with recurrent/recalcitrant sterile recurrent pyogenic arthritis/osteomyelitis, the possibility of an underlying immunological condition should be considered. In both, recurrent infections or recurrent inflammation, many genes involved in the inborn errors of immunity can be associated, and a correct and precocious diagnosis is necessary to avoid mobility and mortality. To the best of our knowledge, this is the first report of PAPA syndrome in Brazil.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2021-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687813/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39611058","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}

{"title":"Immunotherapy in Metastatic Mucosal Melanoma with Disseminated Intravascular Coagulation: A Case of Success.","authors":"Helena Luna Pais,&nbsp;Paulo Luz,&nbsp;Soraia Lobo-Martins,&nbsp;André Mansinho,&nbsp;Rita Sousa,&nbsp;Rita Luís,&nbsp;Dolores Presa,&nbsp;Daniel Gomes,&nbsp;Luís Costa,&nbsp;Rita Teixeira de Sousa","doi":"10.1155/2021/5516004","DOIUrl":"https://doi.org/10.1155/2021/5516004","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"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}

{"title":"Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.","authors":"A Chin,&nbsp;S Balasubramanyam,&nbsp;C M Davis","doi":"10.1155/2021/2767012","DOIUrl":"https://doi.org/10.1155/2021/2767012","url":null,"abstract":"<p><p>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 <i>FLG, DOCK8, SPINK5,</i> and <i>CARD11,</i> 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 <i>FLG</i> (p.S3247X) and multiple variants of unknown significance in <i>BCL11B, ZAP70, LYST,</i> and <i>PTPRC</i>. 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.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"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}

{"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":"<p><p>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.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"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}