Case Reports in Immunology最新文献

{"title":"Chylothorax vs. Pseudochylothorax: Cholesterol Crystal Finding in Pleural Effusion.","authors":"Elena Pizarro Peña, Manuel Ruiz Artero, Amanda Jiménez García, Carmen García Rabaneda, Félix Gascón Luna","doi":"10.1155/crii/2358654","DOIUrl":"https://doi.org/10.1155/crii/2358654","url":null,"abstract":"<p><p>Chylothorax and pseudochylothorax are both rare forms of pleural effusion characterized by a milky appearance of the pleural fluid. Despite their similarities, they have distinct etiologies, clinical implications, and medical management strategies. Pleural fluid analysis of cholesterol and triglyceride levels is crucial to differentiate between them, establish a proper diagnosis, and guide clinical evaluation and treatment. This case report describes an uncommon presentation of pseudochylothorax associated with long-standing rheumatoid arthritis (RA) in a patient with no prior history of pleural disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"2358654"},"PeriodicalIF":0.9,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13681740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149240094","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":"Identification of a Candidate IgE-Binding Maize Protein in a Patient With Corn-Dependent Exercise-Induced Anaphylaxis: A Case Report.","authors":"Ayako Goto, Nobue Takamatsu, Tatsuya Moriyama, Yasuto Kondo, Shinichiro Nagamitsu","doi":"10.1155/crii/2731365","DOIUrl":"10.1155/crii/2731365","url":null,"abstract":"<p><p>Corn-dependent exercise-induced anaphylaxis (food-dependent exercise-induced anaphylaxis [FDEIA]) is rare, and its causative allergens remain poorly defined. Here, we report a case of corn-dependent FDEIA and investigate candidate IgE-binding proteins using immunological and proteomic analyses. A 13-year-old boy with a history of buckwheat allergy developed recurrent anaphylaxis during exercise after ingesting corn-containing foods. An exercise challenge after ingesting 272 g of sweet corn reproduced the symptoms and confirmed the diagnosis. Corn-specific IgE was 3.72 UA/mL, and skin prick testing was positive. IgE immunoblotting revealed patient-specific bands at ~45 and 60 kDa. Two-dimensional immunoblotting and mass spectrometry identified globulin-1S (GLB1) and other proteins as candidate IgE-binding proteins in this patient. Sequence analysis revealed significant local sequence similarity between maize GLB1 and buckwheat Fag e 5 within the second cupin domain. These findings identify GLB1 as a candidate IgE-binding protein in this patient with corn-dependent FDEIA. Although sequence similarities were observed between maize GLB1 and buckwheat Fag e 5, their immunological and clinical significance remains unclear, and further studies are required to determine whether cross-reactivity exists.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"2731365"},"PeriodicalIF":0.9,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13678661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225123","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":"Diagnostic Complexity of Adult-Onset Still's Disease in the Setting of Nosocomial Infection and Antibiotic Hypersensitivity.","authors":"Mei-Chun Lee, Chao-Hsien Lee, Tzu-Han Weng, Ya-Hui Chang","doi":"10.1155/crii/4891053","DOIUrl":"10.1155/crii/4891053","url":null,"abstract":"<p><p>Adult-onset Still's disease (AOSD) is a diagnosis of exclusion and may be difficult to recognize when infection and drug hypersensitivity coexist. A 31-year-old woman presented with high-spiking fever, arthralgia, and a generalized eruption after ampicillin exposure. Initial investigations for infection and autoimmune disease were unrevealing. Her clinical course was subsequently complicated by severe nosocomial infection and recurrent eruptions during antibiotic treatment. Recurrent high-spiking fever and a fever-associated eruption after apparent clinical improvement of infection supported AOSD as the working diagnosis. However, uncertainty regarding the rash and overlapping infectious and drug-related features limited confident retrospective confirmation of the Yamaguchi classification criteria. Following infection control, intravenous methylprednisolone pulse therapy followed by cyclosporine resulted in rapid clinical improvement. This case illustrates the diagnostic complexity of AOSD in the setting of nosocomial infection and antibiotic hypersensitivity.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"4891053"},"PeriodicalIF":0.9,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217010","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":"Anti-MDA5 Dermatomyositis Presenting With Lupus-Like Mucocutaneous Features and Inflammatory Arthritis: A Case Report.","authors":"Laras Budiyani, Dinisa Diah Winari, Agnes Theodora, Suzy Maria, Sukamto Koesnoe, Anshari Saifuddin Hasibuan, Evy Yunihastuti, Findy Prasetyawaty, Luh Ari Indrawati, Eyleny Meisyah Fitri","doi":"10.1155/crii/7236906","DOIUrl":"10.1155/crii/7236906","url":null,"abstract":"<p><p>Understanding diagnosis and management of specific autoimmune diseases is based on existing classifications or diagnostic criteria. However, patients frequently present with broad, multisystem features that mimic multiple autoimmune diseases. Recognizing clinical mimicry is crucial because overclassifying these features as distinct coexisting diseases often presents a diagnostic challenge. We report the case of a 36-year-old man who presented with progressive weakness. The patient initially complained of facial rash and skin lesions, which then developed into tetraparesis, arthralgia, and difficulty swallowing. Physical examination revealed various skin and musculoskeletal manifestations, including erythematous plaques on the face without involving the nasolabial folds, discoid rash, heliotrope rash, Gottron's sign, and multiple ulcers. Neurological examination showed decreased muscle strength and motor lesions. Laboratory results showed an increase in inflammatory markers, positive antinuclear antibodies (ANAs) as well as positive myositis-specific antibodies for melanoma differentiation-associated protein (MDA)-5. Electromyography (EMG) examination showed findings consistent with myogenic lesions. Chest CT scan showed interstitial lung disease (ILD), and hand radiography showed juxta-articular wrist osteopenia consistent with early signs of inflammatory arthritis. Based on these findings, the patient was diagnosed with MDA-5 dermatomyositis (DM) with lupus-like features and inflammatory arthritis, representing a high-risk DM phenotype that clinically mimics a triple overlap syndrome, rather than three distinct confirmed diseases. Initial treatment involved the administration of high-dose methylprednisolone followed by a gradual dose reduction, hydroxychloroquine, and mycophenolate sodium after the secondary skin infection resolved. The patient received multidisciplinary care involving various specialties. After treatment, the patient's motor weakness improved. Distinguishing severe phenotypes of connective tissue diseases (CTDs) from true overlapping syndromes is a diagnostic challenge due to overlapping symptoms and laboratory findings. Accurate diagnosis requires a comprehensive clinical and serological evaluation, as well as a deep understanding of the classification criteria for each disease to avoid overclassification. Early diagnosis and aggressive treatment targeting the primary driving pathology can improve the prognosis and quality of life of patients.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"7236906"},"PeriodicalIF":0.9,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615660/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064997","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":"Wheat-Dependent Exercise-Induced Anaphylaxis Mimicking Acute Asthma in an Adolescent: A Case Report.","authors":"Xia Zhao, HongBin Song, Hui Li, Ying Yan, Ping Li, Bing Zhuan, Wei Zhou","doi":"10.1155/crii/3365796","DOIUrl":"10.1155/crii/3365796","url":null,"abstract":"<p><strong>Background: </strong>Wheat-dependent exercise-induced anaphylaxis (WDEIA) is an acute immediate hypersensitivity reaction triggered by exercise following the ingestion of wheat products, characterized by severe manifestations including urticaria, angioedema, dyspnea, hypotension, and even anaphylactic shock. Notably, WDEIA is rarely induced by wheat ingestion alone or exercise alone, and it is frequently misdiagnosed as asthma due to insufficient clinical awareness, leading to recurrent episodes.</p><p><strong>Case presentation: </strong>We report an 18-year-old male patient who developed dyspnea, laryngeal tightness, generalized urticaria, facial edema, and hypotensive shock shortly after exercise following wheat-based food consumption. The patient was initially misdiagnosed with asthma at a local hospital and achieved symptom remission after emergency treatment with epinephrine and dexamethasone. WDEIA was clinically diagnosed based on the clinical history, serum total immunoglobulin E (IgE) levels, wheat-specific IgE (sIgE) assays, and allergen skin prick tests (SPTs). Different from previously reported WDEIA cases with relatively single clinical presentations, this patient had a long-term atopic diathesis accompanied by multiple allergic sensitizations, which increased the complexity and atypicality of clinical manifestations. The patient was instructed to exercise on an empty stomach or refrain from wheat intake for 4-6 h before exercise. No recurrent allergic episodes occurred during the 5-month follow-up period, which verified the effectiveness of standardized preventive strategies.</p><p><strong>Conclusion: </strong>This case highlights that WDEIA should be considered in the differential diagnosis of acute asthma exacerbation or exercise-related allergic reactions, especially in young atopic individuals. Early identification, prompt administration of epinephrine, and strict avoidance of wheat products before exercise are critical for the effective management and prevention of WDEIA. Combined with a literature review, this study summarizes the pathogenesis, clinical features, diagnostic approaches, emergency management, and preventive strategies of WDEIA, aiming to enhance clinicians' ability to recognize, diagnose, and manage this disease.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3365796"},"PeriodicalIF":0.9,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13596004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149025649","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":"Presence of Antinuclear Antibodies in the Cerebrospinal Fluid and in the Serum in a Patient With Sjögren's Syndrome and Systemic Lupus: A Case Report.","authors":"Cherqaoui Ayman, Taif Hiba, Laraki Kenza, Fadili Hajar, Snoussi Malak, Zrara Abdelhamid, El Bakkouri Jalila","doi":"10.1155/crii/3015090","DOIUrl":"10.1155/crii/3015090","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) may overlap with Sjögren's syndrome (SS), leading to complex systemic involvement, including neurological and pulmonary manifestations. We report a 60-year-old woman with a 10-year history of SLE-SS overlap presenting with headaches and bilateral visual impairment. Hydroxychloroquine (HCQ) had been discontinued 4 months prior due to HCQ-related optic neuropathy confirmed on optical coherence tomography (OCT). Ophthalmologic evaluation revealed bilateral optic neuritis. Immunological testing showed high-titre antinuclear antibodies (ANAs) in both serum (1:640) and cerebrospinal fluid (CSF) (1:320), with positive anti-dsDNA, anti-SSA/Ro52, anti-Sm/RNP, and anti-ribosomal P antibodies. CSF analysis was normal, without pleocytosis, hyperproteinorrhachia, oligoclonal bands, or intrathecal IgG synthesis (IgG index 0.61). Brain MRI showed non-enhancing periventricular demyelinating lesions, and thoracic CT revealed bilateral bronchiectasis. The patient received intravenous methylprednisolone (500 mg/day × 3 days) followed by oral corticosteroids, with leflunomide added as an immunomodulatory agent given the overlap syndrome context, resulting in a favourable clinical outcome. The absence of intrathecal immunoglobulin synthesis and oligoclonal bands supports blood-brain barrier dysfunction rather than a primary demyelinating process, highlighting the diagnostic challenge in SLE-SS overlap. ANA detection in CSF may serve as a supportive marker for neuropsychiatric lupus (NPSLE) in overlap syndromes.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3015090"},"PeriodicalIF":0.9,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13591541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018064","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 Polymicrobial Pneumonia With Septicemia After Interruption of Immunoglobulin Replacement in X-Linked Agammaglobulinemia: A Case Report.","authors":"Hau Dinh Tran, Quang Hung Vo, Nghia Phu Nguyen","doi":"10.1155/crii/7974374","DOIUrl":"10.1155/crii/7974374","url":null,"abstract":"<p><strong>Background: </strong>X-linked agammaglobulinemia (XLA) is an inherited primary immunodeficiency characterized by impaired B-cell maturation, profound hypogammaglobulinemia, and susceptibility to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IGRT) is essential to reduce infectious complications, but treatment interruptions may markedly increase infection risk.</p><p><strong>Case presentation: </strong>An 18-year-old male with XLA discontinued regular intravenous immunoglobulin (IVIG) replacement for 12 months because of financial constraints. He presented with fever, productive cough, pleuritic chest pain, hypoxemia, leukocytosis, and elevated inflammatory markers. His serum IgG level was 98.10 mg/dL. Chest computed tomography showed consolidation of the right middle and lower lobes without cavitation or bronchiectasis. Blood cultures and molecular testing of respiratory specimens identified both <i>Klebsiella pneumoniae</i> and <i>Streptococcus pneumoniae</i>, supporting polymicrobial pneumonia with bloodstream infection. A pathogenic Bruton tyrosine kinase (<i>BTK</i>) c.1522G >A (p.Ala508Thr) variant was confirmed. Intravenous imipenem-cilastatin and levofloxacin were administered according to antimicrobial susceptibility results. After 5 days, fever and oxygen dependence persisted despite improvement in leukocytosis. Following consultation with the hematology department, IVIG was readministered at 400 mg/kg, followed within 48 h by defervescence, discontinuation of supplemental oxygen, and marked improvement in inflammatory markers. He was discharged on hospital day 14, resumed IVIG every 4 weeks, and had no significant residual pulmonary lesion on follow-up computed tomography 1 month later.</p><p><strong>Conclusion: </strong>This case highlights the consequences of interrupted immunoglobulin replacement in XLA and the importance of combining pathogen-directed antimicrobial therapy with restoration of humoral protection in severe infection. It also illustrates how financial barriers may compromise continuity of lifelong treatment.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"7974374"},"PeriodicalIF":0.9,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13562913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957050","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":"The Patient With Multiple Alloantibodies: A Systematic Strategy for Antibody Identification and Transfusion Management.","authors":"Ahmed Alharbi, Haya Wasel, Eman Almutairi, Nourah AlHarethi, Abdulmohsen Alotaibi, Jalal Hassan, Hiyam Almutairi, Rayyan Alotaibi, Maram Alonayzan, Sarah Abdullah Alobaidi, Sarah Al Otaibi, Majd Al Anazi, Hajer Aziz, Rawan Alfraidi, Sanad Al Harthi, Saleh Almutairi, Ahmed Shareefi, Bandar Al Qahtani, Atheer Aloqayli","doi":"10.1155/crii/4700436","DOIUrl":"10.1155/crii/4700436","url":null,"abstract":"<p><strong>Background: </strong>For patients with multiple alloantibodies against red blood cells (RBCs), the challenges posed by transfusion practice are immense due to complex serological reactions that make finding matching units difficult. Identifying underlying antibodies is necessary to prevent hemolytic transfusion reactions (HTRs).</p><p><strong>Objective: </strong>To outline a systematized immunohematologic strategy for the detection and management of several alloantibodies in a surgical patient.</p><p><strong>Methods: </strong>A 64-year-old O-positive female was scheduled for spinal surgery and had a positive pre-transfusion antibody screen. Automated and manual techniques, including multi-cell panels, enzyme-treated cells, thermal amplitude testing, extended phenotyping, DAT, and acid elution, were used in antibody investigation.</p><p><strong>Results: </strong>The alloantibodies anti-s and anti-E were proven to be warm-reactive IgG. The cold-reactive IgM alloantibodies anti-P1 and anti-N were similarly shown to exhibit characteristic temperature reactivity. Anti-Fyb was suspected, but not excluded, for a lack of homozygous rule-in cells. Eluates showed an anti-s reaction with transfused RBCs, consistent with recent exposure. Antigen-negative, phenotype-compatible RBCs were selected that only reacted in the antiglobulin stage, although spin incompatibilities were immediate.</p><p><strong>Conclusion: </strong>This case highlights the significance of systematic approaches to antibody rule-in/rule-out, the thermal-phase test, and phenotype-directed transfusion in patients with multiple alloantibodies. A clear distinction must be made between clinically significant IgG antibodies and cold-reactive IgM antibodies to ensure safe, timely transfusion management.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"4700436"},"PeriodicalIF":0.9,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13539061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148888258","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":"Rescue of Eosinophilic Cardiac Tamponade by Anakinra in a Pregnant Woman With Familial Mediterranean Fever.","authors":"Maxime Quaggetto, Matthieu Groh, Lea Savey, Philippe Rouvier, Quentin Moyon, Sophie Georgin-Lavialle, Marc Pineton de Chambrun","doi":"10.1155/crii/1244531","DOIUrl":"10.1155/crii/1244531","url":null,"abstract":"<p><p>Familial Mediterranean fever (FMF) is an interleukin-1 (IL-1)-driven autoinflammatory disease in which pericarditis, occasionally complicated by cardiac tamponade, is a recognized manifestation, whereas hypereosinophilia is not. We report a woman in her thirties with FMF (homozygous <i>MEFV</i> M694V mutation) receiving colchicine 2.5 mg/day, admitted in the third trimester of pregnancy for dyspnea, fever, and cough. She had blood hypereosinophilia (2.9 G/L), bilateral lung consolidation with bronchoalveolar lavage eosinophilia (46%) and myopericarditis. Cardiac tamponade required emergency pericardiocentesis and cesarean section, with favorable maternal and neonatal outcomes; pericardial fluid contained more than 90% eosinophils. Infectious, autoimmune, drug-induced, and clonal causes were excluded. High-dose corticosteroids only transiently reduced the eosinophil count, which rebounded, while C-reactive protein remained elevated. Both parameters normalized after anakinra was started, allowing corticosteroid withdrawal, with sustained remission at 36 months. Whether hypereosinophilia was a manifestation of FMF or a coincidental association remains undetermined. IL-1 blockade nonetheless controlled both the serositis and the eosinophilia, and may limit corticosteroid exposure.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"1244531"},"PeriodicalIF":0.9,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13505191/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148819813","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":"Persistent Ascites Revealing Mendelian Susceptibility to Mycobacterial Disease Due to IL-12Rβ1 Deficiency: A Case Report and Review of the Literature.","authors":"Mohammadreza Dolikhani, Ghazaleh Shakibamaram, Parisa Rashtian, Mohammad Saberi, Azadeh Reshadmanesh, Hosseinali Ghafaripour, Elham Moradian, Seyed Alireza Mahdaviani, Jacinta Bustamante","doi":"10.1155/crii/3587297","DOIUrl":"10.1155/crii/3587297","url":null,"abstract":"<p><strong>Background: </strong>Mendelian susceptibility to mycobacterial disease (MSMD) is a subset of inborn errors of immunity (IEIs) predisposing to clinical infections from less virulent mycobacterial species. Variants in 22 genes, particularly in IL-12Rβ1, have been identified that impair interferon-gamma (IFN-γ)-mediated immunity. We report a new rare MSMD patient with a homozygous <i>IL12RB1</i> variant who presented with severe and persistent ascites.</p><p><strong>Case report: </strong>We investigated a 30-month-old girl who developed an abscess and lymphadenopathy (LAP) in the left axilla after receiving a BCG vaccine. She was diagnosed and treated for BCG-osis. She presented with ascites, which gradually worsened, along with symptoms of liver dysfunction. Her portal hypertension (PHT) was considered the most likely cause of ascites after exclusion of other common causes. The whole exome sequencing (WES) revealed a homozygous rare variant (c.635G>A; p.Arg212Gln) in the <i>IL12RB1</i> gene. Sanger sequencing analysis confirmed that both parents were heterozygous carriers of the variant. She made a good recovery after receiving the appropriate antimycobacterial and ascites treatments, with significant resolution of her symptoms. Because disseminated <i>M. bovis</i> BCG infection occurred in the setting of IL-12Rβ1 deficiency, prolonged susceptibility-guided antimycobacterial therapy with adjunctive IFN-γ1b and close follow-up by infectious disease and immunology, was planned.</p><p><strong>Conclusion: </strong>This case highlights severe persistent ascites as an unusual manifestation of PHT in IL-12Rβ1 deficiency associated with MSMD. Evaluation for PHT should be considered in MSMD patients with abdominal distension, gastrointestinal symptoms, hepatosplenomegaly, abnormal liver function tests, growth failure, or unexplained free abdominal fluid.</p>","PeriodicalId":42865,"journal":{"name":"Case Reports in Immunology","volume":"2026 ","pages":"3587297"},"PeriodicalIF":0.9,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13504452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148819720","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}