Article
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Clinical immunology (Orlando, Fla.) - 1 Feb 2016
Sharapova Svetlana O, Chang Elizabeth Yenhui, Guryanova Irina E, Proleskovskaya Inna V, Fedorova Alina S, Rutskaya Elena A, Aleinikova Olga V
Abstract excerpt
INTRODUCTION: Here we present an unusual case of DNA ligase IV deficiency syndrome without dysmorphic facial findings and microcephaly complicated with Epstein-Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female. METHODS: PID panel was used for sequencing 55 genes. Most genes have >98% exon coverage including splicing sites. LIG4...
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