BACKGROUND
Thymic epithelial cells (TEC) are essential for positive and negative selection during T-cell development. Hypomorphic RAG deficiency is characterized by T-cell lymphopenia and an increased risk of infections and autoimmunity. However, whether abnormalities of TEC composition and function also contribute to...
Francesca Pala, C. Oguz, Cristina Corsino et al.· Journal of Allergy and Clini...· 0 citations
This study characterizes the clinical, immunological, and genetic spectrum of MHC-II deficiency in the largest cohort reported to date. It identifies recurrent and novel variants and reveals genotype–phenotype differences.
Lydia Lamara Mahammed, Brahim Belaid, Ko-On-Wing Chan et al.· Journal of human immunity· 0 citations
This study characterizes RAG1/RAG2 deficiency, a severe inherited immune disorder, in the largest reported cohort from a North African country, highlighting the need for newborn screening.
Brahim Belaid, Ko-On-Wing Chan, J. Stoddard et al.· Journal of human immunity· 0 citations
PURPOSE
BRIDGES-NBS is a feasibility study evaluating the integration of genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs). We developed a list of conditions for screening.
METHODS
We designed inclusion criteria and assembled an initia...
Nina B. Gold, B. Johnson, H. Somanchi et al.· Genetics in Medicine· 0 citations
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