PMID- 33851733
OWN - NLM
STAT- MEDLINE
DCOM- 20211125
LR  - 20211125
IS  - 1096-9071 (Electronic)
IS  - 0146-6615 (Linking)
VI  - 93
IP  - 8
DP  - 2021 Aug
TI  - Severe herpes virus 6 interstitial pneumonia in an infant with three variants in 
      genes predisposing to lung disease.
PG  - 5182-5187
LID - 10.1002/jmv.27016 [doi]
AB  - 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 
      gene. HHV-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.
CI  - (c) 2021 Wiley Periodicals LLC.
FAU - De Rose, Domenico Umberto
AU  - De Rose DU
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Auriti, Cinzia
AU  - Auriti C
AUID- ORCID: 0000-0001-9820-6557
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Lozzi, Simona
AU  - Lozzi S
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Coltella, Luana
AU  - Coltella L
AUID- ORCID: 0000-0002-4933-4242
AD  - Microbiology Unit, "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Piccioni, Livia
AU  - Piccioni L
AD  - Microbiology Unit, "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Rossi, Sabrina
AU  - Rossi S
AD  - Department of Pathology, "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Novelli, Antonio
AU  - Novelli A
AD  - Medical Genetics Laboratory, "Bambino Gesu" Children's Hospital IRCCS, Rome, 
      Italy.
FAU - Iannotta, Rossella
AU  - Iannotta R
AD  - Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, 
      Italy.
FAU - Pianini, Teresa
AU  - Pianini T
AD  - Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, 
      Italy.
FAU - Picone, Simonetta
AU  - Picone S
AD  - Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, 
      Italy.
FAU - Paolillo, Piermichele
AU  - Paolillo P
AD  - Neonatal Intensive Care Unit, "Policlinico Casilino" General Hospital, Rome, 
      Italy.
FAU - Savignoni, Ferdinando
AU  - Savignoni F
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Capolupo, Irma
AU  - Capolupo I
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
FAU - Digilio, Maria Cristina
AU  - Digilio MC
AD  - Genetics and Rare Diseases Research Division, "Bambino Gesu" Children's Hospital 
      IRCCS, Rome, Italy.
FAU - Cutrera, Renato
AU  - Cutrera R
AD  - Pediatric Pulmonology & Respiratory Intermediate Care Unit, Sleep and Long-Term 
      Ventilation Unit, Department of Pediatrics, "Bambino Gesu" Children's Hospital 
      IRCCS, Rome, Italy.
FAU - Dotta, Andrea
AU  - Dotta A
AD  - Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, 
      "Bambino Gesu" Children's Hospital IRCCS, Rome, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20210504
PL  - United States
TA  - J Med Virol
JT  - Journal of medical virology
JID - 7705876
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (DRC1 protein, human)
RN  - 0 (MUC5B protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Mucin-5B)
RN  - 0 (RSPH9 protein, human)
SB  - IM
MH  - Cytoskeletal Proteins/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genetic Variation
MH  - Herpesvirus 6, Human/genetics/isolation & purification
MH  - Heterozygote
MH  - Humans
MH  - Infant, Newborn
MH  - Lung Diseases, Interstitial/*genetics/therapy/virology
MH  - Microtubule-Associated Proteins/genetics
MH  - Mucin-5B/genetics
MH  - Pneumonia, Viral/genetics/therapy/virology
MH  - Roseolovirus Infections/*genetics/therapy/virology
MH  - Viral Load
OTO - NOTNLM
OT  - DRC1 gene
OT  - HHV-6
OT  - interstitial pneumonia
OT  - neonate
EDAT- 2021/04/15 06:00
MHDA- 2021/11/26 06:00
CRDT- 2021/04/14 08:41
PHST- 2021/03/21 00:00 [revised]
PHST- 2021/01/05 00:00 [received]
PHST- 2021/04/12 00:00 [accepted]
PHST- 2021/04/15 06:00 [pubmed]
PHST- 2021/11/26 06:00 [medline]
PHST- 2021/04/14 08:41 [entrez]
AID - 10.1002/jmv.27016 [doi]
PST - ppublish
SO  - J Med Virol. 2021 Aug;93(8):5182-5187. doi: 10.1002/jmv.27016. Epub 2021 May 4.