Cargando…
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to asse...
Autores principales: | Al-Mousa, Hamoud, Al-Dakheel, Ghadah, Jabr, Amal, Elbadaoui, Fahd, Abouelhoda, Mohamed, Baig, Mansoor, Monies, Dorota, Meyer, Brian, Hawwari, Abbas, Dasouki, Majed |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911483/ https://www.ncbi.nlm.nih.gov/pubmed/29713328 http://dx.doi.org/10.3389/fimmu.2018.00782 |
Ejemplares similares
-
Molecular classification of blood and bleeding disorder genes
por: Baz, Batoul, et al.
Publicado: (2021) -
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
por: Alazami, Anas M., et al.
Publicado: (2018) -
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
por: Dasouki, Majed, et al.
Publicado: (2021) -
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles
por: Cogley, Michael F., et al.
Publicado: (2021) -
A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay
por: Thakar, Monica S., et al.
Publicado: (2017)