Results 51 to 60 of about 45,777 (283)
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
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
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
Newborn screening for severe combined immunodeficiency (SCID): a review.
Frontiers in Bioscience, 2005 Because prompt intervention may prevent complications, early diagnosis is important in many inherited metabolic diseases. Early diagnosis of Severe Combined Immunodeficiency (SCID) is critical - because chances for successful treatment are highest for infants who have not yet experienced severe opportunistic infections.
Hai Huang, K. Manton
semanticscholar +3 more sources
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
, 2013 The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core +5 more sources
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
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