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Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease.
De Rose, Domenico Umberto; Auriti, Cinzia; Lozzi, Simona; Coltella, Luana; Piccioni, Livia; Rossi, Sabrina; Novelli, Antonio; Iannotta, Rossella; Pianini, Teresa; Picone, Simonetta; Paolillo, Piermichele; Savignoni, Ferdinando; Capolupo, Irma; Digilio, Maria Cristina; Cutrera, Renato; Dotta, Andrea.
  • De Rose DU; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Auriti C; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Lozzi S; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Coltella L; Microbiology Unit, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Piccioni L; Microbiology Unit, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Rossi S; Department of Pathology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Novelli A; Medical Genetics Laboratory, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Iannotta R; Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, Italy.
  • Pianini T; Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, Italy.
  • Picone S; Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, Italy.
  • Paolillo P; Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, Italy.
  • Savignoni F; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Capolupo I; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Digilio MC; Genetics and Rare Diseases Research Division, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Cutrera R; Pediatric Pulmonology & Respiratory Intermediate Care Unit, Sleep and Long-Term Ventilation Unit, Department of Pediatrics, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
  • Dotta A; Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.
J Med Virol ; 93(8): 5182-5187, 2021 08.
Article in English | MEDLINE | ID: covidwho-1298501
Semantic information from SemMedBD (by NLM)
1. Pneumoni PROCESS_OF C0021270
Subject
Pneumoni
Predicate
PROCESS_OF
Object
C0021270
2. Genes PREDISPOSES Lung diseases
Subject
Genes
Predicate
PREDISPOSES
Object
Lung diseases
3. herpesvirus CAUSES C3714514
Subject
herpesvirus
Predicate
CAUSES
Object
C3714514
4. Pneumonia PROCESS_OF Patients
Subject
Pneumonia
Predicate
PROCESS_OF
Object
Patients
5. Bronchoscopic irrigation DIAGNOSES Immunocompromised Host
Subject
Bronchoscopic irrigation
Predicate
DIAGNOSES
Object
Immunocompromised Host
6. Structure of parenchyma of lung LOCATION_OF herpesvirus
Subject
Structure of parenchyma of lung
Predicate
LOCATION_OF
Object
herpesvirus
7. herpesvirus CAUSES C0032285
Subject
herpesvirus
Predicate
CAUSES
Object
C0032285
8. ganciclovir TREATS Infant
Subject
ganciclovir
Predicate
TREATS
Object
Infant
9. hydroxychloroquine TREATS Infant
Subject
hydroxychloroquine
Predicate
TREATS
Object
Infant
10. Steroids TREATS Infant
Subject
Steroids
Predicate
TREATS
Object
Infant
11. High frequency oscillatory ventilation TREATS Infant
Subject
High frequency oscillatory ventilation
Predicate
TREATS
Object
Infant
12. Genes CAUSES Respiratory insufficiency syndrome of newborn
Subject
Genes
Predicate
CAUSES
Object
Respiratory insufficiency syndrome of newborn
13. Pathogenic Variant COEXISTS_WITH Gene
Subject
Pathogenic Variant
Predicate
COEXISTS_WITH
Object
Gene
14. Molecular Genetic Technique METHOD_OF Differential Diagnosis
Subject
Molecular Genetic Technique
Predicate
METHOD_OF
Object
Differential Diagnosis
15. Respiratory distress PROCESS_OF Infan
Subject
Respiratory distress
Predicate
PROCESS_OF
Object
Infan
16. Pneumonia, Interstitial PROCESS_OF Infant
Subject
Pneumonia, Interstitial
Predicate
PROCESS_OF
Object
Infant
17. Genes PREDISPOSES Lung diseases
Subject
Genes
Predicate
PREDISPOSES
Object
Lung diseases
18. herpesvirus 6, human CAUSES Infection
Subject
herpesvirus 6, human
Predicate
CAUSES
Object
Infection
19. Pneumonia PROCESS_OF Patients
Subject
Pneumonia
Predicate
PROCESS_OF
Object
Patients
20. Bronchoscopic irrigation DIAGNOSES Immunocompromised Host
Subject
Bronchoscopic irrigation
Predicate
DIAGNOSES
Object
Immunocompromised Host
21. Structure of parenchyma of lung LOCATION_OF herpesvirus 6, human
Subject
Structure of parenchyma of lung
Predicate
LOCATION_OF
Object
herpesvirus 6, human
22. herpesvirus 6, human CAUSES Pneumonia
Subject
herpesvirus 6, human
Predicate
CAUSES
Object
Pneumonia
23. ganciclovir TREATS Infant
Subject
ganciclovir
Predicate
TREATS
Object
Infant
24. hydroxychloroquine TREATS Infant
Subject
hydroxychloroquine
Predicate
TREATS
Object
Infant
25. Steroids TREATS Infant
Subject
Steroids
Predicate
TREATS
Object
Infant
26. High frequency oscillatory ventilation TREATS Infant
Subject
High frequency oscillatory ventilation
Predicate
TREATS
Object
Infant
27. Genes CAUSES Respiratory insufficiency syndrome of newborn
Subject
Genes
Predicate
CAUSES
Object
Respiratory insufficiency syndrome of newborn
28. Pathogenic Variant COEXISTS_WITH Genes, Recessive
Subject
Pathogenic Variant
Predicate
COEXISTS_WITH
Object
Genes, Recessive
29. Molecular Genetic Technique METHOD_OF Differential Diagnosis
Subject
Molecular Genetic Technique
Predicate
METHOD_OF
Object
Differential Diagnosis
30. Respiratory distress PROCESS_OF Infant, Newborn
Subject
Respiratory distress
Predicate
PROCESS_OF
Object
Infant, Newborn
ABSTRACT
Infections due to human herpesvirus 6 (HHV-6) are frequent during early childhood. Usually, they have a favorable clinical course. Conversely, HHV-6 congenital infections occur in about 1% of neonates and may present with more severe clinical pictures. HHV-6 can be found in lung tissues and bronchoalveolar lavage (BAL) samples from patients with pneumonia and in immunocompromised patients can cause mild to severe pneumonia. In neonates, the role of HHV-6 in the genesis of severe pneumonia is poorly defined still now. We describe a healthy infant with a late-onset (15 days of life) severe interstitial pneumonia and heavy HHV-6 genome load, persistently detected in its BAL fluid. The baby underwent high-frequency oscillatory ventilation, hydroxychloroquine, steroids, and ganciclovir for 6 weeks and at 9 months she died. Next-generation sequencing of genes known to cause neonatal respiratory insufficiency revealed the presence of a "probably pathogenetic" heterozygous variant in the autosomal recessive DRC1 gene, a heterozygous variant of unknown significance (VUS) in the autosomal recessive RSPH9 gene, and a heterozygous VUS in the autosomal recessive MUC5B geneHHV-6 infection should be considered in the differential diagnosis of late-onset severe respiratory distress in neonates and the co-occurrence of genetic predisposing factors or modifiers should be tested by specific molecular techniques. The intensity of HHV-6 genome load in BAL fluid could be an indicator of the response to antiviral therapy.
Subject(s)
Keywords

Full text: Available Collection: International databases Database: MEDLINE Main subject: Lung Diseases, Interstitial / Roseolovirus Infections / Genetic Predisposition to Disease Type of study: Case report / Diagnostic study / Etiology study / Prognostic study Topics: Variants Limits: Female / Humans / Infant, Newborn Language: English Journal: J Med Virol Year: 2021 Document Type: Article Affiliation country: Jmv.27016

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Lung Diseases, Interstitial / Roseolovirus Infections / Genetic Predisposition to Disease Type of study: Case report / Diagnostic study / Etiology study / Prognostic study Topics: Variants Limits: Female / Humans / Infant, Newborn Language: English Journal: J Med Virol Year: 2021 Document Type: Article Affiliation country: Jmv.27016