CD3ε+ Cells in Pigs With Severe Combined Immunodeficiency Due to Defects in ARTEMIS
Frontiers in Immunology, 2020 Severe combined immunodeficiency (SCID) is described as the lack of functional T and B cells. In some cases, mutant genes encoding proteins involved in the process of VDJ recombination retain partial activity and are classified as hypomorphs. Hypomorphic
Adeline N. Boettcher +15 more
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Validation of the SCID-hu Thy/Liv mouse model with four classes of licensed antiretrovirals. [PDF]
, 2007 BackgroundThe SCID-hu Thy/Liv mouse model of HIV-1 infection is a useful platform for the preclinical evaluation of antiviral efficacy in vivo.
A Adachi +67 more
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Thymic epithelial cells of severe combined immunodeficiency (SCID) mice [PDF]
Journal of Korean Medical Science, 1994 To characterize thymic epithelial cells of SCID (severe combined immunodeficiency) mice in comparison with those of Balb C mice, we did an immunohistochemical study using cortical and medullary epithelial cell specific monoclonal antibodies (MoAbs), Th-3 and Th-4, as well as gel electrophoresis and immunoblotting.
Inchul Lee, Eunsil Yu, Susumu Ikehara
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Establishing Newborn Screening for SCID in the USA: Experience in California
International Journal of Neonatal Screening, 2021 Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications.
Jennifer M. Puck, Andrew R. Gennery
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Generation and Characterization of Severe Combined Immunodeficiency Rats
Cell Reports, 2012 Severe combined immunodeficiency (SCID) mice, the most widely used animal model of DNA-PKcs (Prkdc) deficiency, have contributed enormously to our understanding of immunodeficiency, lymphocyte development, and DNA-repair mechanisms, and they are ideal ...
Tomoji Mashimo +18 more
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Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening [PDF]
, 2015 Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (
Bredius, R.G.M. (Robbert) +6 more
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A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients
Frontiers in Pediatrics, 2018 We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash.
Lucila A. Barreiros +6 more
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RAG-1 Mutations Associated with B-Cell-Negative SCID Dissociate the Nicking and Transesterification Steps of V(D)J Recombination [PDF]
, 2001 Some patients with B-cell-negative severe combined immune deficiency (SCID) carry mutations in RAG-1 or RAG-2 that impair V(D)J recombination. Two recessive RAG-1 mutations responsible for B-cell-negative SCID, R621H and E719K, impair V(D)J recombination
Chang, Fu-Chung +2 more
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Swiss Medical Weekly, 2020 The recent introduction of newborn screening for severe primary T and B cell deficiencies in Switzerland allows rapid identification of patients with severe combined immunodeficiency (SCID). Outcomes for SCID are greatly improved by early diagnosis and
Johannes Trück +15 more
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Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]
, 2012 Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y. +7 more
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