Homozygous
Adaptor Proteins, Signal Transducing
/ genetics
Apoptosis Regulatory Proteins
/ genetics
Child, Preschool
Cytokines
/ metabolism
Female
Gain of Function Mutation
Homozygote
Humans
Infant
Inflammasomes
Keratinocytes
/ cytology
Male
NLR Proteins
Papillomavirus Infections
/ genetics
Pedigree
Respiratory Tract Infections
/ genetics
Siblings
Syndrome
NLRP1
genetics
human papillomavirus
inflammasome
recurrent respiratory papillomatosis
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
17 09 2019
17 09 2019
Historique:
pubmed:
6
9
2019
medline:
11
4
2020
entrez:
6
9
2019
Statut:
ppublish
Résumé
Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in
Identifiants
pubmed: 31484767
pii: 1906184116
doi: 10.1073/pnas.1906184116
pmc: PMC6754618
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Apoptosis Regulatory Proteins
0
Cytokines
0
Inflammasomes
0
NLR Proteins
0
NLRP1 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
19055-19063Subventions
Organisme : NIAID NIH HHS
ID : R21 AI105987
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM066699
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE017227
Pays : United States
Organisme : NIAID NIH HHS
ID : R21 AI107508
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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