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.
Clin Immunol
; 163: 108-10, 2016 Feb.
Article
en En
| MEDLINE
| ID: mdl-26774591
ABSTRACT
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 gene has 100% exon and splicing site coverage. This was used in Ion Torrent PGM system, the library kit was made by Agilent with Haloplex technology. The sequence analysis software was Alamut, direct sequencing of LIG4 gene was performed after NGS results.RESULT:
We identified three heterozygous mutations in LIG4 gene c.2736+3delC and c.8 C>T (p.A3V) inherited from mother and c.26C>T (p.T9I) - from father after PID panel sequencing and some additional polymorphisms in ATM, NOD2 and NLRP3 genes.CONCLUSION:
This case broadens the clinical spectrum of DNA ligase IV deficiency.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Ligasas
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Neoplasias Encefálicas
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Linfoma de Células B Grandes Difuso
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Infecciones por Virus de Epstein-Barr
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Síndromes de Inmunodeficiencia
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Neoplasias Pulmonares
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Neoplasias Primarias Múltiples
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Clin Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
Año:
2016
Tipo del documento:
Article