A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.

Bastard P, Hsiao KC, Zhang Q, Choin J, Best E, Chen J, Gervais A, Bizien L, Materna M, Harmant C, Roux M, Hawley NL, Weeks DE, McGarvey ST, Sandoval K, Barberena-Jonas C, Quinto-Cortés CD, Hagelberg E, Mentzer AJ, Robson K, Coulibaly B, Seeleuthner Y, Bigio B, Li Z, Uzé G, Pellegrini S, Lorenzo L, Sbihi Z, Latour S, Besnard M, Adam de Beaumais T, Jacqz Aigrain E, Béziat V, Deka R, Esera Tulifau L, Viali S, Reupena MS, Naseri T, McNaughton P, Sarkozy V, Peake J, Blincoe A, Primhak S, Stables S, Gibson K, Woon ST, Drake KM, Hill AVS, Chan CY, King R, Ameratunga R, Teiti I, Aubry M, Cao-Lormeau VM, Tangye SG, Zhang SY, Jouanguy E, Gray P, Abel L, Moreno-Estrada A, Minster RL, Quintana-Murci L, Wood AC, Casanova JL

Open source

DOI: 10.1084/jem.20220028
Published: 2022 Jun 6
Container: The Journal of experimental medicine
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1084/jem.20220028,
  title = {A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.},
  author = {Bastard P and Hsiao KC and Zhang Q and Choin J and Best E and Chen J and Gervais A and Bizien L and Materna M and Harmant C and Roux M and Hawley NL and Weeks DE and McGarvey ST and Sandoval K and Barberena-Jonas C and Quinto-Cortés CD and Hagelberg E and Mentzer AJ and Robson K and Coulibaly B and Seeleuthner Y and Bigio B and Li Z and Uzé G and Pellegrini S and Lorenzo L and Sbihi Z and Latour S and Besnard M and Adam de Beaumais T and Jacqz Aigrain E and Béziat V and Deka R and Esera Tulifau L and Viali S and Reupena MS and Naseri T and McNaughton P and Sarkozy V and Peake J and Blincoe A and Primhak S and Stables S and Gibson K and Woon ST and Drake KM and Hill AVS and Chan CY and King R and Ameratunga R and Teiti I and Aubry M and Cao-Lormeau VM and Tangye SG and Zhang SY and Jouanguy E and Gray P and Abel L and Moreno-Estrada A and Minster RL and Quintana-Murci L and Wood AC and Casanova JL},
  year = {2022},
  journal = {The Journal of experimental medicine},
  doi = {10.1084/jem.20220028},
  url = {https://doi.org/10.1084/jem.20220028}
}

RIS

TY  - JOUR
TI  - A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
AU  - Bastard P
AU  - Hsiao KC
AU  - Zhang Q
AU  - Choin J
AU  - Best E
AU  - Chen J
AU  - Gervais A
AU  - Bizien L
AU  - Materna M
AU  - Harmant C
AU  - Roux M
AU  - Hawley NL
AU  - Weeks DE
AU  - McGarvey ST
AU  - Sandoval K
AU  - Barberena-Jonas C
AU  - Quinto-Cortés CD
AU  - Hagelberg E
AU  - Mentzer AJ
AU  - Robson K
AU  - Coulibaly B
AU  - Seeleuthner Y
AU  - Bigio B
AU  - Li Z
AU  - Uzé G
AU  - Pellegrini S
AU  - Lorenzo L
AU  - Sbihi Z
AU  - Latour S
AU  - Besnard M
AU  - Adam de Beaumais T
AU  - Jacqz Aigrain E
AU  - Béziat V
AU  - Deka R
AU  - Esera Tulifau L
AU  - Viali S
AU  - Reupena MS
AU  - Naseri T
AU  - McNaughton P
AU  - Sarkozy V
AU  - Peake J
AU  - Blincoe A
AU  - Primhak S
AU  - Stables S
AU  - Gibson K
AU  - Woon ST
AU  - Drake KM
AU  - Hill AVS
AU  - Chan CY
AU  - King R
AU  - Ameratunga R
AU  - Teiti I
AU  - Aubry M
AU  - Cao-Lormeau VM
AU  - Tangye SG
AU  - Zhang SY
AU  - Jouanguy E
AU  - Gray P
AU  - Abel L
AU  - Moreno-Estrada A
AU  - Minster RL
AU  - Quintana-Murci L
AU  - Wood AC
AU  - Casanova JL
PY  - 2022
JO  - The Journal of experimental medicine
DO  - 10.1084/jem.20220028
UR  - https://doi.org/10.1084/jem.20220028
ER  -

APA

P, B., KC, H., Q, Z., J, C., E, B., J, C., A, G., L, B., M, M., C, H., M, R., NL, H., DE, W., ST, M., K, S., C, B., CD, Q., E, H., AJ, M., K, R., B, C., Y, S., B, B., Z, L., G, U., S, P., L, L., Z, S., S, L., M, B., T, A. D. B., E, J. A., V, B., R, D., L, E. T., S, V., MS, R., T, N., P, M., V, S., J, P., A, B., S, P., S, S., K, G., ST, W., KM, D., AVS, H., CY, C., R, K., R, A., I, T., M, A., VM, C., SG, T., SY, Z., E, J., P, G., L, A., A, M., RL, M., L, Q., AC, W., & JL, C. (2022). A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.. The Journal of experimental medicine. https://doi.org/10.1084/jem.20220028

Source records

pubmed · retrieved 2026-09-26T01:18:24.437Z