Back to Search Start Over

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

Authors :
Nizar Mahlaoui
Marie-Louise Frémond
Marine Dumarest
Capucine Picard
C. Hébert
Philippe Pérot
Guilhem Cros
Nicole Corre-Catelin
Isabelle Desguerre
Marc Eloit
Stéphane Blanche
Danielle Seilhean
Marc Lecuit
E. Muth
Bénédicte Neven
CHU Necker - Enfants Malades [AP-HP]
Université Paris Descartes - Paris 5 (UPD5)
Institut des Maladies Génétiques Imagine [Paris]
Découverte de Pathogènes - Pathogen Discovery
Biologie des Infections - Biology of Infection
Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
PathoQuest
Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH)
Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]
Génétique Humaine des Maladies Infectieuses (Inserm U980)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
CHU Pitié-Salpêtrière [APHP]
Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC)
Université Pierre et Marie Curie - Paris 6 (UPMC)
Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources (ICAReB)
Institut Pasteur [Paris]
Service des Maladies infectieuses et tropicales [CHU Necker]
Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP]-Institut des Maladies Génétiques Imagine [Paris]
Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
This work was funded by the French Government's Investissement d'Avenir program, Laboratoire d'Excellence 'Integrative Biology of Emerging Infectious Diseases' (Grant Number ANR-10-LABX-62-IBEID), and Institut National de la Santé et de la Recherche Médicale.
We thank the platform Investigation Clinique et Accès aux Ressources Biologiques (Institut Pasteur, Paris) for help in the management of biological samples.
ANR-10-LABX-62-IBEID,IBEID,Laboratoire d'Excellence 'Integrative Biology of Emerging Infectious Diseases'(2010)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)
Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP]
Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
CHU Pitié-Salpêtrière [AP-HP]
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Institut Pasteur [Paris] (IP)
Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)
ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010)
Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Source :
Journal of the Pediatric Infectious Diseases Society, Journal of the Pediatric Infectious Diseases Society, Oxford University Press 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩, Journal of the Pediatric Infectious Diseases Society, 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩
Publication Year :
2015
Publisher :
HAL CCSD, 2015.

Abstract

International audience; 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.

Subjects

Subjects :
Male
encephalitis
[SDV]Life Sciences [q-bio]
Anti-Inflammatory Agents
X-linked agammaglobulinemia
law.invention
Epilepsy
astrovirus
Cerebrospinal fluid
MESH: Astroviridae Infections
law
[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
Astroviridae Infections
MESH: Sequence Analysis, RNA
Encephalitis, Viral
MESH: High-Throughput Nucleotide Sequencing
Polymerase chain reaction
medicine.diagnostic_test
biology
High-Throughput Nucleotide Sequencing
Genetic Diseases, X-Linked
General Medicine
3. Good health
MESH: Encephalitis, Viral
Infectious Diseases
[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology
MESH: Epilepsy
[SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology
MESH: Genome, Viral
Encephalitis
MESH: Astroviridae
MESH: Antiviral Agents
Adolescent
Bruton
Genome, Viral
Antiviral Agents
DNA sequencing
Astrovirus
Cerebellar Diseases
medicine
MESH: Genetic Diseases, X-Linked
Humans
MESH: Agammaglobulinemia
MESH: Adolescent
MESH: Humans
Sequence Analysis, RNA
business.industry
Brain biopsy
MESH: Cerebellar Diseases
medicine.disease
biology.organism_classification
Virology
MESH: Male
agammaglobulinemia
MESH: Anti-Inflammatory Agents
Pediatrics, Perinatology and Child Health
Astroviridae
business
[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Details

Language :
English
ISSN :
20487193 and 20487207
Database :
OpenAIRE
Journal :
Journal of the Pediatric Infectious Diseases Society, Journal of the Pediatric Infectious Diseases Society, Oxford University Press 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩, Journal of the Pediatric Infectious Diseases Society, 2015, 4 (3), pp.e53-e57. ⟨10.1093/jpids/piv040⟩
Accession number :
edsair.doi.dedup.....8145214fd7ba2df80da6ed45cf5581d3
Full Text :
https://doi.org/10.1093/jpids/piv040⟩
Full Text Access
View/download PDF

Tools

Authors Abstract Subjects Details