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

M.-L. Frémond 1, 2, 3 P. Pérot 4 E. Muth 5 G. Cros 1, 2, 3 M. Dumarest 4 N. Mahlaoui 6, 7, 1, 3, 2 D. Seilhean 8, 9 I. Desguerre 1, 2, 3 C. Hébert 5 N. Corre-Catelin 10 B. Neven 2, 1, 3 M. Lecuit 1, 11, 2, 12, 3 S. Blanche 1, 2, 3 C. Picard 6, 1 Marc Eloit 4, 5, * 
* Corresponding author
1 CHU Necker - Enfants Malades [AP-HP]
2 UPD5 - Université Paris Descartes - Paris 5
3 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
4 Découverte de Pathogènes - Pathogen Discovery
Biologie des Infections - Biology of Infection
5 PathoQuest
6 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
7 Inserm U980 - Génétique Humaine des Maladies Infectieuses
8 CHU Pitié-Salpêtrière [AP-HP]
9 UPMC - Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie
10 ICAReB - Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources
11 Service des Maladies infectieuses et tropicales [CHU Necker]
12 Biologie des Infections - Biology of Infection
Abstract : 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.
Keywords : agammaglobulinemia astrovirus Bruton encephalitis
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PASTEUR | UNIV-PARIS5 | UPMC | SORBONNE-UNIVERSITE | SU-MEDECINE | UNIV-PARIS | UP-SANTE | SU-TI | ANR

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M.-L. Frémond, P. Pérot, E. Muth, G. Cros, M. Dumarest, et al.. Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis. Journal of the Pediatric Infectious Diseases Society, Oxford University Press 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩. ⟨pasteur-02452610⟩

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