Severe combined immunodeficiency screening by measuring T-receptor excision circles at birth allows evaluation of the impact of various maternal conditions on newborn immunity. The slight decrease observed in a French cohort of newborns to HIV-infected mothers can be explained by the confounding factors of prematurity and African descent.
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http://dx.doi.org/10.1016/j.jpeds.2018.06.008 | DOI Listing |
Clin Chem
January 2025
Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
Background: Newborn screening is a public health system designed to identify infants at risk for conditions early in life to facilitate timely intervention and treatment to prevent or mitigate adverse health outcomes. Newborn screening programs use tandem mass spectrometry as a platform to detect several treatable inborn errors of metabolism, and the T-cell receptor excision circle assay to detect some inborn errors of the immune system. Recent advancements in DNA sequencing have decreased the cost of sequencing and allow us to consider DNA sequencing as an additional platform to complement other newborn screening methods.
View Article and Find Full Text PDFDiseases
November 2024
Department of Gynecology and Gynecologic Oncology, Medical University of Białystok, Skłodowskiej Str. 24A, 15-276 Białystok, Poland.
Background: Dermatofibrosarcoma protuberans (DFSP) is a rare proliferative condition representing skin sarcomas known to locally recur yet very rarely known to metastasize. A typical characteristic is trunk localization, making vulvar occurrences an exception. Complete resection is the primary treatment.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2024
Hematopoietic Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Immune reconstitution is a significant factor in the success of "hematopoietic stem cell transplantation" (HSCT). Delaying the immune reconstitution increases the risk of infections and relapse after transplantation. T-cell recovery after HSCT is mainly thymus-dependent, and thymic atrophy is associated with various clinical conditions that correlate with HSCT outcomes.
View Article and Find Full Text PDFPLoS Genet
December 2024
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.
Premature expression of genes in mobile genetic elements can be detrimental to their bacterial hosts. Tn916, the founding member of a large family of integrative and conjugative elements (ICEs; aka conjugative transposons), confers tetracycline-resistance and is found in several Gram-positive bacterial species. We identified a transcription terminator near one end of Tn916 that functions as an insulator that prevents expression of element genes when Tn916 is integrated downstream from an active host promoter.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved the prognosis of SCID. In Japan, NBS testing (measurement of the T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC)) was launched in 2017 and has expanded nationwide in recent years. In this study, we report a Japanese patient with X-linked SCID with a novel variant identified through NBS.
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