Case Reports in Immunology最新文献

{"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}

{"title":"Limbic Encephalitis following Allogeneic Hematopoietic Stem Cell Transplantation.","authors":"Silje Johansen,&nbsp;Jostein Kråkenes,&nbsp;C A Vedeler,&nbsp;Anette Margrethe Storstein,&nbsp;Håkon Reikvam","doi":"10.1155/2022/4174755","DOIUrl":"https://doi.org/10.1155/2022/4174755","url":null,"abstract":"<p><p>A woman with myelodysplastic syndrome (MDS) was treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). 65 days after the transplantation, she developed fatigue and central neurological symptoms. Clinical workup including magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) examination revealed findings suspicious for limbic encephalitis (LE), successfully treated with intravenous immunoglobulins and intravenous corticosteroids. Although a rare complication after allo-HSCT, physicians should be aware of neurological symptoms that develop throughout the transplantation course.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40370594","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":"Systemic Sclerosis, Reversible Cerebral Vasoconstriction Syndrome, and NeuroMyelitis Optica in a Patient.","authors":"Masoud Etemadifar,&nbsp;Mehdi Shafiei,&nbsp;Mehri Salari,&nbsp;Ali Modares Sadeghi,&nbsp;Mohammad Fakhrolmobasheri","doi":"10.1155/2022/8541329","DOIUrl":"https://doi.org/10.1155/2022/8541329","url":null,"abstract":"<p><p>Systemic sclerosis (SSC) is an autoimmune disease of connective tissue and microvasculature mostly caused by autoantibodies. Likewise, neuromyelitis optica (NMO) is a demyelinating disease of the central nervous system correlating with autoantibodies against aquapourin-4. Reversible cerebral vasoconstriction syndrome (RCVS) is a disorder of brain vasculature resembling Raynaud phenomena in SSC. Despite co-occurrence is not rare in autoimmune disorders, the co-occurrence of NMO and SSC is extremely rare. In this case, we report a 35-year-old female presenting with paraplegia one day after discharge from hospital following surgical carnioplasty. She had a history of scleroderma and optic neuritis for which she was treated with high dose glucocorticoids causing renal crisis and RCVS causing intracranial and intracerebral hemorrhage which required a craniotomy to be performed in February 2020. In her recent admission, magnetic resonance imaging of the spinal cord indicated longitudinally extensive transverse myelitis (LETM) and blood tests revealed a highly positive titer of NMO-IgG. Daily plasmapheresis resulted in satisfactory improvement in her condition. This case highlights the importance of evaluating neurologic manifestations in systemic sclerosis patients considering the NMO and RCVS occurrence. Additionally, in concomitant cases, the treatment strategy should be modified regarding the risk of scleroderma renal crisis.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40527432","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 of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.","authors":"Ugur Musabak,&nbsp;Serdar Ceylaner,&nbsp;Tuba Erdogan,&nbsp;Ebru Sebnem Ayva","doi":"10.1155/2022/4970973","DOIUrl":"https://doi.org/10.1155/2022/4970973","url":null,"abstract":"Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein–Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9273453/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40592242","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":"Passenger Lymphocyte Syndrome and Autoimmune Hypothyroidism Following Hematopoietic Stem Cell Transplantation.","authors":"Denis F Noubouossie,&nbsp;Mohammed I A Zaanona,&nbsp;Luciano J Costa,&nbsp;Huy P Pham,&nbsp;Marisa B Marques,&nbsp;Antonio Di Stasi","doi":"10.1155/2022/1690489","DOIUrl":"https://doi.org/10.1155/2022/1690489","url":null,"abstract":"<p><p>We present the case of a 24-year-old male, who received a minor ABO-incompatible allogeneic hematopoietic stem cell transplant (HSCT, blood group O⁺ ⟶ A⁺) from an HLA-matched unrelated female donor, as consolidation therapy for relapsed precursor-B-cell acute lymphoblastic leukemia. The donor had a known history of Hashimoto's thyroiditis before HSCT. At day +10 posttransplant, the patient developed severe hemolysis, which required emergent red blood cell exchange. Additionally, about a year posttransplant, he had circulating antithyroglobulin antibodies, decreased free-T4 (fT4) and increased serum thyroid-stimulating hormone (TSH). The potential causes of the posttransplant hemolytic episode and hypothyroidism are discussed. While the hemolysis was worsened by the transfusion of A red blood cells (RBCs) in the context of passenger lymphocyte syndrome, the thyroid dysfunction might be explained by an autoimmune disease transferred from the donor. The case highlights the possibility of several non-relapse-related complications of HSCT occurring in the same patient. It is critical that such adverse outcomes are distinguished from classical graft-versus-host disease (GVHD) for adequate recipient counseling, posttransplant screening, and prompt treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9246625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40469282","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 Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.","authors":"Ezgi Topyildiz,&nbsp;Neslihan Edeer Karaca,&nbsp;Ayse Aygun,&nbsp;Ayca Aykut,&nbsp;Asude Durmaz,&nbsp;Guzide Aksu,&nbsp;Necil Kutukculer","doi":"10.1155/2022/7313009","DOIUrl":"https://doi.org/10.1155/2022/7313009","url":null,"abstract":"<p><p>Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections. We present a four-year-old Turkish boy who had recurrent respiratory tract infections in the last six months. He had very low IgG (81 mg/dl) and IgA levels (<5 mg/dl) with high IgM (258 mg/dl). Flow cytometric analysis of lymphocyte subsets showed low CD19+ B cells (0.05%). Homozygous c.790C > T (p.Gln264Ter) mutation was detected in the BLNK gene with Targeted Next Generation Sequencing (TNGS) gene analysis. Agammaglobulinemia may be due to different genetic etiologies together with complex genetic events. Although the first diagnosis to be considered in male patients is Bruton's agammaglobulinemia, patients with normal BTK sequence and/or expression should be investigated with a large genetic study such as TNGS in the early period to reach a definitive diagnosis. This male case of agammaglobulinemia highlights the necessity of considering BLNK mutations in children with B cell deficiency, even though they are known to be rare causes of agammaglobulinemia. Our case is also remarkable with high IgM levels before intravenous immunoglobulin replacement therapy and with late-onset severe infections.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40012687","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}