title: Next-Generation Sequencing for Diagnosis and Tailored Therapy: A Case Report of Astrovirus-Associated Progressive Encephalitis.
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.
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, France.
authors.forename: M-L
authors.initials: ML
authors.lastname: Frémond
authors.affiliation: Institut Pasteur, Biology of Infection Unit, Institut National de la Santé et de la Recherche Médicale (INSERM) U1117, Pathogen Discovery Laboratory, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Pérot
authors.affiliation: PathoQuest, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Muth
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, France.
authors.forename: G
authors.initials: G
authors.lastname: Cros
authors.affiliation: Institut Pasteur, Biology of Infection Unit, Institut National de la Santé et de la Recherche Médicale (INSERM) U1117, Pathogen Discovery Laboratory, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Dumarest
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, France Laboratoire de Génétique Humaine des Maladies Infectieuses, Branche Necker, INSERM U1163, Paris, France Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Mahlaoui
authors.affiliation: Département de Neuropathologie, Hôpital Universitaire Pitié-Salpétrière, Université Pierre et Marie Curie, Sorbonne Universités, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Seilhean
authors.affiliation: Université Paris Descartes, Unité de Neuropédiatrie, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: Desguerre
authors.affiliation: PathoQuest, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Hébert
authors.affiliation: Investigation Clinique et Accès aux Ressources Biologiques, Institut Pasteur, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Corre-Catelin
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, France.
authors.forename: B
authors.initials: B
authors.lastname: Neven
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Paris Descartes University, Sorbonne Paris Cité, Division of Infectious Diseases and Tropical Medicine, Necker-Enfants Malades University Hospital, Institut Imagine, France Institut Pasteur, Biology of Infection Unit, INSERM U1117, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Lecuit
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, France.
authors.forename: S
authors.initials: S
authors.lastname: Blanche
authors.affiliation: Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.affiliation: Institut Pasteur, Biology of Infection Unit, Institut National de la Santé et de la Recherche Médicale (INSERM) U1117, Pathogen Discovery Laboratory, Paris, France PathoQuest, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Eloit
mesh_terms: D000293:Adolescent; D000361:Agammaglobulinemia / Q000150:complications* / Q000188:drug therapy; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000998:Antiviral Agents / Q000008:administration & dosage / Q000627:therapeutic use; D019200:Astroviridae / Q000145:classification / Q000235:genetics* / Q000302:isolation & purification; D019350:Astroviridae Infections / Q000175:diagnosis / Q000188:drug therapy* / Q000821:virology*; D002526:Cerebellar Diseases / Q000188:drug therapy / Q000209:etiology; D018792:Encephalitis, Viral / Q000175:diagnosis / Q000188:drug therapy* / Q000821:virology*; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000188:drug therapy; D016679:Genome, Viral; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D017423:Sequence Analysis, RNA
chemical_list: D000893:Anti-Inflammatory Agents; D000998:Antiviral Agents
keywords: Bruton; agammaglobulinemia; astrovirus; encephalitis