Results 41 to 50 of about 45,012 (247)
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
doaj +1 more source
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
doaj +1 more source
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
core +1 more source
The C Terminus of Ku80 activates the DNA-dependent protein kinase catalytic subunit [PDF]
, 1999 Ku is a heterodimeric protein with double-stranded DNA end-binding activity that operates in the process of nonhomologous end joining. Ku is thought to target the DNA-dependent protein kinase (DNA-PK) complex to the DNA and, when DNA bound, can interact ...
Jeggo, P A +4 more
core +2 more sources
Neonatal abstinence syndrome is a potential cause of low TREC copy number
Allergy, Asthma & Clinical Immunology, 2021 Severe combined immunodeficiency (SCID) is a rare genetic condition characterized by significant T cell lymphopenia and impaired T cell function. Many jurisdictions use the quantitation of T cell receptor excision circles (TRECs) to screen for SCID in ...
Adil Adatia +4 more
doaj +1 more source
Frontiers in Immunology, 2021 Mutations of the interleukin 2 receptor γ chain (IL2RG) result in the most common form of severe combined immunodeficiency (SCID), which is characterized by severe and persistent infections starting in early life with an absence of T cells and natural ...
Jolanda Steininger +14 more
doaj +1 more source
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
core
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches [PDF]
, 2017 Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published.
Cirillo, Emilia +3 more
core +1 more source
Journal of Microbiology, Immunology and Infection, 2023 From 2011, 37 children were referred to a hospital due to low levels of T cell receptor excision circles (TRECs) from newborn screening. Among them, three children were immunologically characterized and followed up to show that postnatal corticosteroid ...
Po-Sung Chen +10 more
doaj +1 more source
Frontiers in Immunology, 2020 Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an
Janne Strand +34 more
doaj +1 more source