Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis

被引:109
作者
Fremond, M. -L. [1 ,2 ]
Perot, P. [3 ]
Muth, E.
Cros, G. [1 ,2 ]
Dumarest, M. [3 ]
Mahlaoui, N. [1 ,2 ,5 ,6 ]
Seilhean, D. [7 ]
Desguerre, I. [8 ]
Hebert, C. [4 ]
Corre-Catelin, N. [9 ]
Neven, B. [1 ,2 ]
Lecuit, M. [1 ,10 ,11 ]
Blanche, S. [1 ,2 ]
Picard, C. [6 ]
Eloit, M. [3 ,4 ]
机构
[1] Hop Univ Necker Enfants Malades, AP HP, Unite Immuno Hematol & Rhumatol Pediat, Paris, France
[2] Univ Paris 05, Sorbonne Paris Cite, Inst Imagine, Paris, France
[3] INSERM U1117, Inst Pasteur, Pathogen Discovery Lab, Biol Infect Unit, Paris, France
[4] PathoQuest, Paris, France
[5] INSERM U1163, Lab Genet Humaine Malad Infectieuses, Paris, France
[6] Hop Univ Necker Enfants Malades, AP HP, Ctr Reference Deficits Immunitaires Hereditaires, Paris, France
[7] Univ Paris 06, Hop Univ Pitie Salpetrire, Sorbonne Univ, Dept Neuropathol, Paris, France
[8] Hop Univ Necker Enfants Malades, Univ Paris Descartes, Unite Neuropediat, Paris, France
[9] Invest Clin & Acces Ressources Biolog, Inst Pasteur, Paris, France
[10] Paris Descartes Univ, Sorbonne Paris Cite, Necker Enfants Malades Univ Hosp, Inst Imagine,Div Infect Dis & Trop Med, Paris, France
[11] INSERM U1117, Institut Pasteur, Biol Infect Unit, Paris, France
关键词
agammaglobulinemia; astrovirus; Bruton; encephalitis;
D O I
10.1093/jpids/piv040
中图分类号
R51 [传染病];
学科分类号
100201 [内科学];
摘要
A boy with X-linked agammaglobulinemia experienced progressive global motor decline, cerebellar syndrome, and epilepsy. All standard polymerase chain reactions for neurotropic viruses were negative on cerebrospinal fluid and brain biopsy. Next-generation sequencing allowed fast identification of a new astrovirus strain (HAstV-VA1/HMO-C-PA), which led to tailor the patient's treatment, with encouraging clinical monitoring over 1 year.
引用
收藏
页码:E53 / E57
页数:5
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