Case Reports in Immunology最新文献

{"title":"Can Genetic Predisposition Play a Role in Anti-Glutamic Acid Decarboxylase (GAD) Autoimmunity? A Rare Presentation in Three Siblings.","authors":"Ammar Alobaidy, Mulham Alsulaimi, Ameer Alajmi","doi":"10.1155/crii/6581645","DOIUrl":"https://doi.org/10.1155/crii/6581645","url":null,"abstract":"<p><p>Anti-glutamic acid decarboxylase (anti-GAD) autoimmunity possess a poorly understood diversity in the development of neurological manifestations with or without diabetes mellitus (DM) association. A possible genetic contribution might further expand the complexity of anti-GAD pathogenesis and demand further exploration and research. We report three siblings in the same family (two sisters and one brother) who were tested positive for anti-GAD antibodies (anti-GAD-Abs) and presented with different clinical disorders, associated with DM in one of them. Although scarce data are available in the literature concerning the influence of possible genetic predisposition on the development of anti-GAD autoimmunity, yet there is cumulative evidence to support this association which is further elucidated in this report. Whether to recommend family screening tests for patients with positive anti-GAD autoimmunity is still undetermined and further studies are required to solve the unanswered queries pertinent to this potentially treatable autoimmune disorder.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"6581645"},"PeriodicalIF":1.5,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13110270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784598","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":"Managing Alpha-Gal Allergy in a Case of Bioprosthetic TAVR.","authors":"Ruchi Patel, Aarav Patel, Ruchi Biswas, Benjamin Hsieh, Dhanasekaran Ramasamy, Chirag Patel","doi":"10.1155/crii/8190714","DOIUrl":"https://doi.org/10.1155/crii/8190714","url":null,"abstract":"<p><p>Alpha-gal syndrome (AGS) is an uncommon IgE-mediated allergy to mammalian-derived products, caused by sensitization to the oligosaccharide galactose-α-1,3-galactose (alpha-gal) after tick exposure. Although AGS is best recognized for delayed anaphylaxis following ingestion of red meat, its implications for exposure to mammalian-derived biomaterials remain poorly characterized. We present an elderly woman with AGS who required transcatheter aortic valve replacement (TAVR) using a bovine bioprosthesis. An 84-year-old woman with serologically confirmed AGS following a Lone Star tick bite in 2012 presented with symptomatic severe aortic stenosis. Her clinical history included multiple allergic reactions to beef, persistently elevated IgE to beef, pork, and lamb, and a specific alpha-gal IgE >100 kU/L. Following a multidisciplinary evaluation, she was not considered a candidate for a mechanical valve. A prophylactic regimen was implemented, including cetirizine, omalizumab, and 60 mg prednisone 6 h prior to TAVR. The procedure was successfully performed with a bovine-derived bioprosthetic valve. Perioperative tryptase levels remained within normal range (5.2 µg/L), and no hypersensitivity reactions occurred. Postoperatively, prednisone was tapered, while fexofenadine and omalizumab were continued for 6 months. This case highlights that bioprosthetic valve replacement can be safely performed in AGS patients through multidisciplinary planning and individualized prophylaxis strategies. Further data are needed to develop standardized perioperative management protocols for this rare but clinically significant condition.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8190714"},"PeriodicalIF":1.5,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784630","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":"Adult Onset of Acute Disseminated Encephalomyelitis (ADEM) With Associated Myelin Oligodendrocyte Glycoprotein (MOG) Antibody.","authors":"Daniel Wilmot, Kaylee Sorrells, Sydnee Guthrie, Sapna Vyas, Mackenzie Lupov","doi":"10.1155/crii/8603136","DOIUrl":"https://doi.org/10.1155/crii/8603136","url":null,"abstract":"<p><p>ADEM is an inflammatory and demyelinating autoimmune disorder of the central nervous system (CNS). One recognized cause of ADEM is myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). MOGAD affects approximately one in 10,000 people worldwide and is more prevalent in children. Patients typically present with optic neuritis, ADEM, and transverse myelitis. Many patients will experience relapses of demyelinating attacks, and thus, both acute and maintenance therapies are typically used to manage the disease. This case considers an adult female who presented with neurological deficits as a result of MOG-associated ADEM. She had minimal response to traditional therapies but responded well to treatment with IV immunoglobulin (IVIG). This case report explores her clinical course as well as unique clinical significance and conclusions due to the nontraditional use of IVIG.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8603136"},"PeriodicalIF":1.5,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13091007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724318","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":"False Elevation of Parathyroid Hormone in a Patient With Lung Metastasis of Rectal Cancer After Immunotherapy: A Case Report and Literature Review.","authors":"Chang-Sheng Xia, Lingli Zhou, Chendi Jing, Chunhong Fan, Yejiao Hong, Zhi-Hong Yue, Leili Gao, Fang Ren","doi":"10.1155/crii/8400162","DOIUrl":"https://doi.org/10.1155/crii/8400162","url":null,"abstract":"<p><strong>Background: </strong>Immunoassays are commonly used in clinical laboratories to measure a variety of analytes, including hormones and tumor markers. Interference caused by rheumatoid factor (RF), heterophile antibodies, and human anti-animal antibodies (HAAA) has been reported but is rarely identified in daily practice. Here, we report a case of falsely elevated parathyroid hormone (PTH) due to immunoassay interference and review the literature.</p><p><strong>Case presentation: </strong>A 57-year-old man who recovered well from lung metastasis of rectal cancer treated with bevacizumab and sintilimab for 1 year, presented to Peking University People's Hospital with persistently high PTH levels (>1200 ng/L) measured by a Roche Elecsys assay. He had hypoadrenocorticism induced by anti-programmed cell death 1 (PD-1), normal renal function, normal total calcium level, and normal 25-OH vitamin D concentration. The Beckman Coulter UniCel DxI 800 and Siemens Immulite 2000 platforms measured PTH levels of 18.3 ng/L and 8.7 ng/L, respectively. After the patient's serum was treated with polyethylene glycol (PEG) precipitation or mouse serum, the PTH levels determined by the Roche immunoassay decreased to 56.5 ng/L and 265.3 ng/L, respectively.</p><p><strong>Conclusion: </strong>Interference due to human anti-mouse antibodies (HAMA) could be the cause of falsely elevated PTH in the patient. Physicians should realize that immunoassay interference can lead to false results and closely communicate with the laboratory to avoid misdiagnosis and inappropriate therapies.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"8400162"},"PeriodicalIF":1.5,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12968431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147436050","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":"Severe COVID-19 Unveils Atypical Familial Hemophagocytic Lymphohistiocytosis due to a Novel Homozygous <i>PRF1</i> Variant.","authors":"Nasimeh Vatandoost, Mohsen Jari, Mansour Salehi","doi":"10.1155/crii/3879317","DOIUrl":"10.1155/crii/3879317","url":null,"abstract":"<p><p>We report a novel homozygous <i>PRF1</i> variant, <i>PRF1</i> (NM_001083116.3):c.343G > A (p.Glu115Lys), identified by whole-exome sequencing (WES) in an 11-year-old girl with atypical familial hemophagocytic lymphohistiocytosis (FHL). The variant, inherited from asymptomatic heterozygous parents, was absent or extremely rare in population databases and was predicted to be deleterious by multiple in silico tools. Born to consanguineous parents, the patient presented with recurrent fever, pancytopenia, and multiorgan failure following SARS-CoV-2 infection, further complicated by Epstein-Barr virus (EBV) and cytomegalovirus (CMV) coinfections. Despite intensive immunosuppressive therapy, she developed seizures, an intracranial hemorrhage, and died at age 11. A striking family history of unexplained febrile deaths in infancy and childhood strongly supported autosomal recessive inheritance. It emphasizes the role of viral triggers, especially COVID-19, in revealing genetic predispositions and underscores the importance of genetic screening in atypical cases.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3879317"},"PeriodicalIF":1.5,"publicationDate":"2026-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12887974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146167003","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":"Neonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations.","authors":"Anwar Abu Hetta, Rayyan G Shakarnah, Khalil R Salah, Jasem Y Hroub, Abdallah N Khatib, Amjad H Rabei","doi":"10.1155/crii/1817159","DOIUrl":"10.1155/crii/1817159","url":null,"abstract":"<p><p>Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocyte oxidative burst and may present in early life with severe or recurrent infections. We report a female infant born at 38 weeks' gestation (birth weight 2700 g) who developed fever and presumed sepsis at 5 days of life, followed by multiple recurrent hospitalizations for febrile illness with suspected meningitis, diarrhea, dehydration, and failure to thrive. Cerebrospinal fluid (CSF) evaluations across episodes demonstrated pleocytosis with elevated protein and normal-to-low glucose, while Gram stain and CSF cultures were repeatedly negative, consistent with recurrent culture-negative meningitis. Laboratory assessment showed intermittent anemia, thrombocytosis, and episodes of significant neutropenia. Complement and immunoglobulin levels were within reference ranges, and flow cytometry demonstrated preserved T- and B-lymphocyte compartments. A flow cytometric dihydrorhodamine (DHR) oxidative burst assay was markedly abnormal (phorbol 12-myristate 13-acetate stimulation index 13%; <i>Escherichia coli</i> stimulation index 22.3%), supporting the diagnosis of CGD. At ~4.5 months of age, a sterile catheter urine culture grew multidrug-resistant <i>Klebsiella pneumoniae</i> at ≥100,000 CFU/mL with susceptibility limited to aminoglycosides; the patient was treated with amikacin 15 mg/kg/dose intravenously once daily for 10 days, with defervescence within 48 h, clinical recovery, and a repeat urine culture showing no growth. Genetic testing was not performed due to financial and social constraints, and longer-term outcomes beyond early infancy were unavailable in the record extract. This case underscores that recurrent culture-negative meningitis in early infancy should prompt evaluation for primary immunodeficiency and that early DHR testing can expedite CGD diagnosis and guide timely preventive management and specialist referral.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"1817159"},"PeriodicalIF":1.5,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12776254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935162","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":"Cogan's Syndrome: Complex Diagnostics, Treatment, and Results of Hearing Rehabilitation in Long-Term Follow-Up-Case Series.","authors":"Nóra Kecskeméti, Beáta Bencsik, Ágnes Szirmai, László Tamás, Marianna Küstel, András Grimm, Zsuzsanna Géhl, Hunor Sükösd, Péter Magyar, Anita Gáborján","doi":"10.1155/crii/8559583","DOIUrl":"10.1155/crii/8559583","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to present the diagnostic and therapeutic challenges of Cogan's syndrome (CS) and the outcomes of hearing rehabilitation in long-term follow-up.</p><p><strong>Methods: </strong>Retrospective data analyses of patients with CS treated at Semmelweis University were performed. Comprehensive evaluations, including medical assessments, audiological measurements, otoneurological investigations, imaging, and ophthalmological examinations, were conducted on all patients.</p><p><strong>Results: </strong>Between 1995 and 2022, five patients with CS were followed. The severity and timing of ear and ocular symptoms varied. Bilateral, asymmetric hearing impairment manifested as sudden sensorineural hearing loss, and all patients experienced loss of bilateral vestibular function. Various ophthalmological manifestations showed instability over time. Systemic corticosteroids were the first-line treatment, immunosuppressive therapy (methotrexate, cyclophosphamide, cyclosporin A), and biological treatment (infliximab, adalimumab) used as second- and third-line therapies. Eye symptoms of all five patients were controlled by medications. For hearing impairment, four patients were treated with cochlear implantation and achieved long-term stable speech perception. Hearing improvement was found in one patient by conservative therapy. One patient required reimplantation due to device failure, which was performed without complications.</p><p><strong>Conclusion: </strong>Sudden hearing loss and vestibular attacks in young patients require thorough investigation and close follow-up. Early corticosteroid therapy or immunosuppressive and biological treatment can stabilize symptoms, including hearing levels. Early hearing rehabilitation with cochlear implants is crucial. Long-term follow-up indicates stable hearing levels and speech perception.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"8559583"},"PeriodicalIF":1.5,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12747111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145865795","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":"Gastroparesis-An Often-Overlooked Sign of Multiple Sclerosis: Case Report.","authors":"Breveenn Kukan, Kaylee Brown, Minh Chung, Steven Veselsky, Joshua Ferrell","doi":"10.1155/crii/1789381","DOIUrl":"10.1155/crii/1789381","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune disease and demyelinating disorder of the central nervous system (CNS) with diverse clinical presentations that can make the diagnosis challenging. In this case report, we describe a rare initial presentation of MS, mistaken for Type 1 diabetes mellitus (T1DM) impaired gastric motility. The patient is a 32-year-old female with a history significant for T1DM who presented with 3 days of intractable vertigo, nystagmus, and gait disturbance. She was discharged 2 days prior for intractable nausea and vomiting presumed to be due to impaired gastric motility called gastroparesis. There was no prior history of focal neurologic deficits. Her family history revealed extensive autoimmune diseases in multiple first-degree relatives. Physical examination suggested a peripheral lesion but could not rule out a central lesion. Magnetic resonance imaging (MRI) brain demonstrated white matter lesions in regions specific for MS. The patient experienced modest improvement with IV corticosteroids. Patients with T1DM have a threefold increase in the incidence of MS. While gastroparesis is an uncommon initial symptom of MS, this diagnosis should be considered, particularly when neurological deficits are present. This case underscores the importance of considering the enteric nervous system in patients with preexisting autoimmune conditions with new-onset neurological symptoms.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"1789381"},"PeriodicalIF":1.5,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145679135","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":"Interleukin-6 Inhibitor-Induced Leukocytoclastic Vasculitis: A Case Report With a Literature Review.","authors":"Tatevik Aloyan, Dinara Salimova, Ebrahim Mohamed, Hina Wazir","doi":"10.1155/crii/8863357","DOIUrl":"10.1155/crii/8863357","url":null,"abstract":"<p><strong>Background: </strong>Leukocytoclastic vasculitis (LCV) is a known hypersensitivity reaction to biologic agents, often linked to tumor necrosis factor-α (TNF-α)inhibitors. We present a rare case of LCV in a patient receiving tocilizumab, a monoclonal antibody directed against interleukin-6 (IL-6)receptor.</p><p><strong>Case presentation: </strong>A 33-year-old Asian female with seropositive rheumatoid arthritis presented to the rheumatology clinic complaining of a new rash that started a few days after an infusion of tocilizumab. Her rheumatoid arthritis had been managed with upadacitinib for several years, which was discontinued due to persistent transaminitis. She was started on tocilizumab after a 4-month break from biologics. Following the first tocilizumab infusion, she recalled having transient fatigue and several red dots on her forearms and feet. A few days after the second infusion, she developed a purpuric rash on her lower extremities and forearms. Skin biopsy confirmed LCV. The rash resolved slowly in a month after discontinuation of tocilizumab and prescription of prednisone 20 mg daily. At her 3-month follow-up, the patient remained in remission, and her rheumatoid arthritis was uneventfully managed with abatacept.</p><p><strong>Conclusions: </strong>While most cases of biologic-associated LCV are induced by TNF-α inhibitors, only two known cases of tocilizumab-induced hypersensitivity vasculitis have been published in the literature. Our case represents only the third reported instance in the literature, highlighting the need to raise awareness of tocilizumab as a potential cause of leukocytoclastic vasculitis and the importance of prompt recognition and management.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"8863357"},"PeriodicalIF":1.5,"publicationDate":"2025-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12665487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662306","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":"Granulomatosis With Polyangiitis (GPA) Presenting With Painless Scleritis and Ocular Hypertension: Case Report.","authors":"Khaled A Elubous, Hady Saheb, Karin M Oliver","doi":"10.1155/crii/6631904","DOIUrl":"https://doi.org/10.1155/crii/6631904","url":null,"abstract":"<p><p>This case report describes a 67-year-old male who presented with a 2-month history of painless left eye redness and muffled hearing. Ophthalmologic examination revealed elevated intraocular pressure (IOP) and significant conjunctival injection without associated pain or visual disturbance. Blood was observed in Schlemm's canal (SC), and a thorough investigation for elevated episcleral venous pressure (EVP) was performed. Imaging, including magnetic resonance imaging (MRI) and cerebral angiogram, was unremarkable. A rheumatologic workup led to the diagnosis of granulomatosis with polyangiitis (GPA). The patient's ocular symptoms improved significantly with systemic steroid treatment. He was subsequently managed with rituximab and avacopan as per standard GPA therapy. This case highlights the importance of considering vasculitis in patients presenting with unexplained elevation of EVP, and painless scleritis, particularly when there are also extraocular complaints.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2025 ","pages":"6631904"},"PeriodicalIF":1.5,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12646726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145640661","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}