Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease

ObjectiveTo investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis.MethodsClinical characteristics and laboratory findings were retrospectively revi…

Neuronal intranuclear inclusion disease with initial manifestation of intractable nausea and vomiting responsive to corticosteroids: a case report

Neuronal intranuclear inclusion disease (NIID) can initially present with gastrointestinal symptoms as the sole or primary manifestation for decades before neurological signs emerge. We report the case of a 61-year-old woman with a 22-year history of d…

Case Report: Primary gallbladder undifferentiated small round cell sarcomas treated with gemcitabine, paclitaxel, bevacizumab and pembrolizumab achieved remarkable tumor regression

Undifferentiated small round cell sarcoma (USRCS) are a rare, aggressive group of tumors associated with rapid progression, metastasis, and poor prognosis. Preoperative diagnosis remains elusive, particularly for extraosseous variants, and effective tr…

Sustained abnormal bilirubin and leukocyte levels after ERCP with acute suppurative obstructive cholangitis: a case report with 2 months follow-up observation

Acute Suppurative Obstructive Cholangitis (AOSC) typically resolves post-ERCP. However, a 53-year-old male had persistent hyperbilirubinemia and leukocytosis (WBC 28.12×109/L) along with marked eosinophilia (20.26×109/L) despite standard antibiotic the…

Case Report: Transient perivascular inflammation of the carotid artery syndrome: a rare etiology of self-limiting carotidynia

ObjectivesTransient perivascular inflammation of the carotid artery (TIPIC) syndrome is a recently recognized clinicoradiological entity that has not yet been formally incorporated into established disease classifications. It is frequently overlooked i…

Ruxolitinib reverses systemic vasculitis driven by JAK2 V617F–mutated essential thrombocythemia: a case report

BackgroundVasculitis associated with myeloproliferative neoplasms is rare, and reports on its treatment are limited. Herein, we report a case of Janus Kinase2 (JAK2) V617F mutation–positive essential thrombocythemia (ET) associated with vasculitis.Case…

Case Report: Localized hyperinflammatory response in the bulla after mosquito bites in a patient with systemic lupus erythematosus

A patient with systemic lupus erythematosus developed localized swelling with blistering after mosquito bites. A complete blood count showed eosinophils were 1.09 × 109/L (13.9%). Total IgE was more than 5,000 KU/L. Examination of the blister fluid sho…

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