Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature

BackgroundActivated phosphoinositide 3-kinase delta syndrome (APDS) is a primary immunodeficiency caused by gain-of-function mutations in the PIK3CD gene, leading to dysregulated immune responses. Clinical manifestations include recurrent infections, l…

Diagnosing Rickettsia felis infection with Metagenomic Next-Generation Sequencing (mNGS) in a patient with ankylosing spondylitis: a case report and literature review

Rickettsia felis, an emerging flea-borne pathogen with global distribution potential, is a neglected cause of undifferentiated febrile illness, although reported human cases remain sparse. The development of molecular diagnostic methods, along with the…

Overlap syndrome of anti-aquaporin-4 positive neuromyelitis optica spectrum disorder and mixed connective tissue disease: a case report

Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated inflammatory demyelinating disease affecting the optic nerve and spinal cord. NMOSD frequently coexists with other autoimmune diseases. However, its concurrence with mixed connective …

Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy

BackgroundAutoimmune polyglandular syndrome type 1 (APS-1) is a rare inborn error of immunity caused by mutations in the AIRE gene, typically associated with chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. We report th…

Successful surgical management of unresectable stage IIIB LSCC following neoadjuvant chemotherapy combined with toripalimab: a case report

Immunotherapy has emerged as a promising strategy to improve the survival of patients with cancer. This case report presents a patient with unresectable advanced lung squamous cell carcinoma (LSCC) who successfully underwent surgical resection followin…

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