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Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
World J Pediatr
December 2024
Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Article Synopsis
- * In a study involving over 103,000 newborns in Zhejiang Province, multiplex real-time PCR detected genetic markers associated with these disorders, leading to 122 samples requiring further testing.
- * The study identified several cases of SCID, XLA, and SMA, with positive predictive values indicating effectiveness of the screening method, suggesting potential for broader implementation of NBS across China.
Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic variant: a case report and literature review.
Front Pediatr
July 2024
Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.
Background And Aims: There is an increased risk of lymphomas in inborn errors of immunity (IEI); however, germline genetic testing is rarely used in oncological patients, even in those with early onset of cancer. Our study focuses on a child with a recombination-activating gene 1 () deficiency who was identified through a screening program for Slavic founder genetic variants among patients who died with malignancy at an early age in Belarus.
Results: We identified one homozygous founder variant out of 24 available DNA samples from 71 patients who developed lymphoma aged <3 years from the Belarusian cancer registry between 1986 and 2023.
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period.
View Article and Find Full Text PDFImportance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children.
Sci Rep
September 2023
Department of Immunogenetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is to evaluate the importance of using T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) as molecular markers for immunological investigation of children with DS. The study included 40 non-disjunction trisomy 21 confirmed DS children, and 25 healthy controls.
View Article and Find Full Text PDFExpansion of the immature B lymphocyte compartment in Graves' disease.
Eur J Endocrinol
August 2023
Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle-upon-Tyne NE1 3BZ, United Kingdom.
Objective: The specific mechanisms driving autoimmunity in Graves' disease (GD) remain largely unknown. Kappa-deleting recombination excision circles (KRECs) are circular DNA molecules generated during B cell maturation in the bone marrow which provide a measure of B cell production and proliferation. We aimed to investigate the association between KRECs and B cell subpopulations, with thyroid status and clinical outcome in GD patients.
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