Article

Novel XLF/Cernunnos mutation linked to severe combined immunodeficiency, microcephaly and abnormal T and B cell receptor repertoires

2021-04-14

Abstract excerpt

<h4>Background: </h4> During the process of generating diverse T and B cell receptor (TCR and BCR, respectively) repertoires, double strand DNA breaks are produced. Subsequently, these breaks are corrected by a complexed system led mainly by the non-homologous end-joining (NHEJ). Mutations in proteins involved in this process, including the XLF/ Cernunnos gene, cause severe combined immunodeficiency syndrome (SCID...

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Literature Corpus work: e4500d70-c309-559f-b24c-8b5a65a7ad94
DOI: 10.22541/au.161840345.51834377/v1

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