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Abstract Background: Laryngopharyngeal squamous cell carcinoma (LPSCC), a subset of head and neck malignancies, reveals different clinical outcomes despite similar staging. Circulating tumor cells (CTCs) have emerged as one of the important and promising minimally invasive biomarkers for disease management; however, their clinical utility in LPSCC remains unclear, particularly in resource-limited settings.
Specific granule deficiency (SGD)—a rare innate immune disorder—is classified into types 1 and 2 (SGD-1 and -2). SGD-1 is caused by variants of the CCAAT/enhancer-binding protein epsilon (C/EBPε) gene. We assessed the molecular mechanisms underlying C/EBPε dysfunction in SGD-1, caused by the frameshift variant (c.655_665del; del11) that we previously reported. We compared the functions of del11 with those of the previously reported p.Arg247_Ser248del (ΔRS) variant and wild-type (WT) C/EBPε.
Introduction: X-linked lymphoproliferative syndrome (XLP) is a rare primary immune deficiency. Two types of XLP have been described: XLP-1 and XLP-2. Methods: We found 7 patients with XLP (3 had XLP-1 and 4 had XLP-2) after reviewing the data from Pediatric Immunodeficiency Clinic from 1997 to 2021. Results: Mean age at diagnosis was 3.8 years, and mean delay in diagnosis was 2.6 years. Five patients had recurrent episodes of infections.
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As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
