Case Reports in Immunology最新文献

{"title":"Autoreactive Antibodies Associated with Castleman Disease Triad.","authors":"Jacqueline A Turner, Ali Hakimi, Hannah Lee, Jeffrey T Schowinsky, Jeffrey M Sippel, Bradford J Siegele, Raul M Torres, William A Robinson","doi":"10.1155/2024/9382107","DOIUrl":"10.1155/2024/9382107","url":null,"abstract":"<p><p>The Castleman triad has been described in a select few patients presenting with a retroperitoneal mass, mucocutaneous pemphigus vulgaris, and bronchiolitis obliterans. Here, we describe the Castleman triad in a 19-year-old male with unicentric hyaline vascular type Castleman disease (HV-CD). This patient presented with an array of positive antibodies, including anti-cyclic citrullinated peptide, anti-double-stranded DNA, and Sjogren's IgG. Interestingly, the patient's rheumatologic symptoms resolved after tumor resection, while his antibody profile remained relatively unchanged. HV-CD, with a triad presentation, was thought to be from a paraneoplastic syndrome secondary to an underlying lymphoproliferative disorder. The findings presented here identify multiple autoantibodies potentially contributing to this patient's presentation with HV-CD.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2024 ","pages":"9382107"},"PeriodicalIF":1.0,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10937079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140121781","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":"Omeprazole Induced Rapid Drug Reaction with Eosinophilia, Systemic Symptoms, and Cross-Reactivity in Delayed-Type Hypersensitivity Associated with Proton-Pump Inhibitors: A Case Report and Literature Review","authors":"Kanokkarn Pinyopornpanish, K. Pinyopornpanish, Kanokwan Pinyopornpanish, Juthipong Benjanuwattra, Putthapon Teepapan, Apinya Chungcharoenpanich, Wannada Laisuan","doi":"10.1155/2024/1317971","DOIUrl":"https://doi.org/10.1155/2024/1317971","url":null,"abstract":"Background. Omeprazole, a proton pump inhibitor (PPI), is a widely used and generally safe agent for treating acid-related gastrointestinal conditions. However, drug reaction with eosinophilia and systemic symptoms (DRESSs) syndrome has been reported. Objectives. To report a case of omeprazole-induced rapid DRESS syndrome and to review the literature. Methods. Descriptive analysis of one new case and a case series from literature review. Results. We report a case of 82-year-old woman presenting with rapid-onset of DRESS syndrome. The condition was initially suspected to be caused by antibiotic, but the definite diagnosis was eventually omeprazole-induced DRESS syndrome as suggested by the enzyme-linked immune absorbent spot (ELISpot) assay along with the clinical picture. Previous literatures regarding cases of PPI-induced DRESS syndrome were pooled for descriptive analysis. Among 21 PPI cases pooled, esomeprazole was the most commonly implicated PPI (52.4%), followed by pantoprazole (19.1%), and omeprazole along with lansoprazole (both 14.3%). The issue of cross-reactivities amongst PPIs remains uncertain. Nonetheless, in situations in which a PPIs are deemed necessary, a prudent approach could be considering a switch to an alternative agent with distinct chemical structure. Conclusion. PPI is commonly used safely as an agent for acid-related gastrointestinal conditions. However, PPI-induced rapid DRESS syndrome can occur, particularly with prior exposure history. ELISpot is an in vitro test, useful in identifying the culprit agent in patients with delayed-type hypersensitivity reaction.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"25 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139388462","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 BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia.","authors":"Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer","doi":"10.1155/2023/6698913","DOIUrl":"10.1155/2023/6698913","url":null,"abstract":"<p><p>X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton's tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-old male with a longstanding common variable immunodeficiency diagnosis on infusion therapy presented to the clinic with cutaneous T-cell lymphoma, which inspired overall repeat evaluation. Immunoglobulin levels and lymphocyte markers, family history, and genetic testing prompted a true diagnosis of XLA and novel mutation in the BTK gene. Disease-associated mutations have been noted in all five domains of BTK, with missense variants most commonly cited among the 100s of reported genetic alterations. The BTK protein is expressed in hematopoietic lineages and plasma cells, with the exception of T lymphocytes. Disruption in the protein function or absence of BTK halts normal B cell development at the pre-B transitional cell stage and induces premature apoptosis. We present the first reported case of a novel hemizygous BTK c.1492C > G mutation in a patient causing XLA.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"6698913"},"PeriodicalIF":1.0,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478872","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":"Toxic Epidermal Necrolysis after COVID-19 mRNA-1237 Vaccination","authors":"Nicole Hehr, Benjamin P. Davis","doi":"10.1155/2023/8855665","DOIUrl":"https://doi.org/10.1155/2023/8855665","url":null,"abstract":"This letter illustrates a case of toxic epidermal necrolysis (TEN) after COVID-19 mRNA-1273 vaccination, which corresponds with the existing published data and contributes detailed knowledge of TEN reaction after vaccination. Interestingly, the reaction started at the site of vaccination and the patient went on to tolerate a major excipient of the vaccine suggesting the reaction may be associated with the mRNA itself or is triggered by the immunostimulatory action of the vaccine.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"6 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956674","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":"Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency.","authors":"T W Hoffman,&nbsp;H L Leavis,&nbsp;B M Smits,&nbsp;L T van der Veken,&nbsp;D A van Kessel","doi":"10.1155/2023/3977739","DOIUrl":"https://doi.org/10.1155/2023/3977739","url":null,"abstract":"<p><p>Patients with primary immunodeficiencies are especially vulnerable to developing severe coronavirus disease 2019 (COVID-19) after infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an important regulator of immune responses, and patients who suffer from <i>CTLA4</i> haploinsufficiency have hyperactivation of effector T cells and infiltration of various organs. Overexpression of <i>CTLA4</i> has been associated with a more severe disease course in patients with COVID-19, but there have only been a few reports on the disease course of COVID-19 in patients with <i>CTLA4</i> haploinsufficiency. We report on a 33-year-old female with a history of immune thrombocytopenia, autoimmune haemolytic anaemia, granulomatous-lymphocytic interstitial lung disease, and common variable immunodeficiency who developed COVID-19. She was admitted and discharged from the hospital several times in the months thereafter and remained symptomatic and had a positive SARS-CoV-2 PCR for up to 137 days after the first symptoms. No SARS-CoV-2 antibodies were identified in the patients' serum. The disease was finally controlled after repeated infusions of convalescent plasma and treatment of concurrent bacterial and fungal infections. Genetic analysis revealed a likely pathogenic variant in <i>CTLA4</i>, and CTLA4 expression on regulatory T-cells was low. This case illustrates that patients with primary immunodeficiencies who have a protracted disease course of COVID-19 could benefit from convalescent plasma therapy.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"3977739"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9938852","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":"A Heart Gone Bananas: Allergy-Induced Coronary Vasospasm due to Banana (Kounis Syndrome).","authors":"Lauren Reinhold,&nbsp;Stephen Lynch,&nbsp;Carl B Lauter,&nbsp;Simon R Dixon,&nbsp;Andrew Aneese","doi":"10.1155/2023/5987123","DOIUrl":"https://doi.org/10.1155/2023/5987123","url":null,"abstract":"<p><p>Kounis syndrome encompasses a variety of cardiovascular signs and symptoms associated with mast cell activation in the setting of allergic or hypersensitivity and anaphylactic or anaphylactoid insults. It can manifest as coronary vasospasm, coronary, or in-stent thrombosis, and acute myocardial infarction with plaque rupture. Various medications as well as foods including fish, shellfish, mushroom, kiwi, and rice pudding have been implicated as causal agents. We present what we believe to be the first documented case of Kounis syndrome manifesting as coronary vasospasm as the result of an allergy to banana. This case highlights the importance of considering allergic causes of angina and allergy referral in a patient with known atopy and an otherwise negative cardiovascular workup. It also emphasizes to consider food allergy, especially banana, as a cause of Kounis syndrome.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"5987123"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9801298","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":"Pernicious Anemia in an Adult with Trisomy 21.","authors":"Kentaro Kamada,&nbsp;Osamu Kawano,&nbsp;Satoshi Yakuwa,&nbsp;Kentaro Wakasa,&nbsp;Kimiaki Uetake","doi":"10.1155/2023/2747756","DOIUrl":"https://doi.org/10.1155/2023/2747756","url":null,"abstract":"<p><p>Pernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the <i>AIRE</i> gene, which is located in the 21q22.3 region. Although pernicious anemia is not common in people with trisomy 21, <i>AIRE</i> is pointed out as a susceptibility gene of pernicious anemia in a genome-wide association study. Here, we report a man with trisomy 21, who suffered from the pernicious anemia. When he was in his 30 s, he visited our hospital because of diarrhea and poor oral intake. He showed thrombocytopenic purpura-like features, and was diagnosed as pernicious anemia. After supplementation of vitamin B12, he recovered from the illness. The reason for his early onset may be because of trisomy 21. Altered expression of <i>AIRE</i> might trigger the disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"2747756"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10208237","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":"Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome in a Child with Cystic Fibrosis.","authors":"Ahmed Abushahin,&nbsp;Haneen Toma,&nbsp;Sara G Hamad,&nbsp;Mutasim Abu-Hasan","doi":"10.1155/2023/1006376","DOIUrl":"https://doi.org/10.1155/2023/1006376","url":null,"abstract":"<p><strong>Background: </strong>Drug reaction with eosinophilia and systemic symptoms (DRESSs) syndrome is an idiosyncratic drug-induced reaction that rarely occurs in children but can lead to serious complications. It manifests most commonly with fever, extensive skin eruptions, and eosinophilia. Symptoms typically develop two to six weeks after the initiation of the inciting drug. Visceral organ involvement especially the liver can also occur and if not recognized early and the inciting drug is not stopped immediately, it can lead to liver failure. Therefore, early diagnosis is important but can be very challenging because of disease rarity, lack of a diagnostic test, and its overlap with other common pediatric allergic and infectious conditions. <i>Case Presentation</i>. A 2.5-year-old boy with known diagnosis of cystic fibrosis, bilateral bronchiectasis, pancreatic insufficiency, and chronic airway colonization with <i>Pseudomonas aeruginosa</i> was admitted to our hospital with acute pulmonary exacerbation of CF lung disease. He was treated with intravenous piperacillin-tazobactam and intravenous amikacin in addition to airway clearance. On day 18 of treatment, the patient developed high grade fever followed by diffuse erythematous and pruritic maculopapular rash. Blood tests showed high eosinophilia, high C-reactive protein (CRP), and high liver enzymes levels. The clinical features and the laboratory findings were consistent with the DRESS syndrome. Therefore, all antibiotics were discontinued. Progressive resolution of the symptoms was observed within two days. Laboratory abnormalities were also normalized in the follow-up clinic visit 4 months later.</p><p><strong>Conclusion: </strong>Our case demonstrates the importance of early recognition of the DRESS syndrome in children who develop fever and skin rashes with eosinophilia while undergoing long-term antibiotic treatment. Prompt discontinuation of the offending drug is the cornerstone therapy and results in the resolution of symptoms and prevention of serious complications.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"1006376"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10697998","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":"An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.","authors":"Gulcin Aytac,&nbsp;Burcu Guven,&nbsp;Ilyas Aydin,&nbsp;Ezgi Topyildiz,&nbsp;Ayca Aykut,&nbsp;Asude Durmaz,&nbsp;Neslihan Edeer Karaca,&nbsp;Guzide Aksu,&nbsp;Necil Kutukculer","doi":"10.1155/2023/2363760","DOIUrl":"https://doi.org/10.1155/2023/2363760","url":null,"abstract":"<p><strong>Background: </strong>APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. <i>Case Presentation</i>. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome.</p><p><strong>Conclusion: </strong>Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2023 ","pages":"2363760"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9415144","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":"A Case Report of Immune Checkpoint Inhibitor-Induced Aortitis Treated with Tocilizumab.","authors":"Chance H Bloomer,&nbsp;Rahul V Annabathula,&nbsp;Vanya Aggarwal,&nbsp;Bharathi Upadhya,&nbsp;Thomas W Lycan","doi":"10.1155/2022/7971169","DOIUrl":"https://doi.org/10.1155/2022/7971169","url":null,"abstract":"<p><p>Vasculitic immune checkpoint inhibitor-related adverse events (irAEs) are rare, with limited data to guide their management. Here, we present a case of a 67-year-old female with stage IV cutaneous melanoma who received first-line pembrolizumab. She had completed 21 cycles of pembrolizumab dosed at 200 mg every 21 days over 15 months when she developed fatigue, chills, decreased appetite, night sweats, nausea, diarrhea, dry cough, and chest pain. A routine, staging positron emission tomography (PET) scan revealed aortitis of the transverse aortic arch. An extensive workup was unremarkable for other causes, so her condition was labeled a grade III immune-related vasculitis. Based on this diagnosis, we started high-dose prednisone and discontinued pembrolizumab. After two months of high-dose prednisone, she developed bothersome weight gain and insomnia, leading to a switch from prednisone to tocilizumab as a steroid-sparing agent. The selection of tocilizumab was based on its routine use for giant cell arteritis which can have extracranial symptoms including thoracic aortitis. Her symptoms resolved, and subsequent PET scans showed resolution of the aortitis and no evidence of metastatic melanoma. As the indications for immunotherapy expand, rare complications are becoming more prevalent, and more data will be needed to guide their management. While there is evidence for tocilizumab use as a steroid-sparing treatment for large-vessel vasculitides due to other conditions, this is the first case of its use to treat an aortitis irAE to our knowledge. In this case, it was an effective means of treating the patient while sparing them from prolonged corticosteroids.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":" ","pages":"7971169"},"PeriodicalIF":1.0,"publicationDate":"2022-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40583032","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}