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Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.
J Clin Med
January 2025
Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.
View Article and Find Full Text PDFThe impact of radiation-related lymphocyte recovery on the prognosis of locally advanced esophageal squamous cell carcinoma patients: a retrospective analysis.
Radiat Oncol
January 2025
Department of Radiation Oncology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
Background: The impact of radiation-related lymphocyte recovery on prognosis in locally advanced esophageal squamous cell carcinoma (LA-ESCC) remains unclear.
Methods: Patients with stage II-IVa ESCC who received definitive RT were screened. Collect absolute lymphocyte counts (ALCs) before, during, and after RT.
Clinical Outcomes and Characteristics of COVID-19 in Neonates: A Single-Center Study in Romania.
Life (Basel)
December 2024
Emergency Hospital' Sf. Ioan Cel Nou', 720224 Suceava, Romania.
Background: SARS-CoV-2 infection is generally associated with less severe forms of disease in children, where most cases only require symptomatic treatment. However, there is a paucity of information regarding the impact and clinical course of COVID-19 in neonate patients. This study aimed to analyze the epidemiological and clinical aspects of COVID-19 in this particular age group who were patients treated in our department.
View Article and Find Full Text PDFEmerging Radiotherapy Technologies for Head and Neck Squamous Cell Carcinoma: Challenges and Opportunities in the Era of Immunotherapy.
Cancers (Basel)
December 2024
Department of Radiation Oncology, University of North Carolina, Chapel Hill, NC 27599, USA.
Radiotherapy (RT) is an integral component in the multidisciplinary management of patients with head and neck squamous cell carcinoma (HNSCC). Significant advances have been made toward optimizing tumor control and toxicity profiles of RT for HNSCC in the past two decades. The development of intensity modulated radiotherapy (IMRT) and concurrent chemotherapy established the standard of care for most patients with locally advanced HNSCC around the turn of the century.
View Article and Find Full Text PDFThymic and T-cell intrinsic critical roles associated with Severe Combined Immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.
J Allergy Clin Immunol
December 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Background: Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations can cause severe combined immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death.
Objective: To perform immunological and molecular characterization of an infant with a PSMB10 heterozygous variant.
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