Partial recessive IFN-γR1 deficiency: genetic, immunological…
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- DOI 10.1093/hmg/ddr029
- PMID https://pubmed.ncbi.nlm.nih.gov/21266457
- PMCID https://www.ncbi.nlm.nih.gov/pmc/articles/3115578
- OpenAlex ID W2095961369
- Type Article
- Language EN
- Published 25 Jan 2011
- Volume 20 (8)
- Pages 1509–1523
- Source Human Molecular Genetics
- Publisher Oxford University Press
- FWCI 4.11
- Countries 5
- Institutions 16
- Added 24 Jun 2016
- Updated 31 Oct 2026
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Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
Article 2011 EN Bronze
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients w…
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34
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4.11
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34 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Ithaisa Sologuren | Hospital Universitario de Gran… (ES) | |
| 2 | Stéphanie Boisson‐Dupuis | Inserm (FR) Human Genetic of Infectious Di… (FR) +2 | |
| 3 | J. Pestano | — | |
| 4 | Quentin B. Vincent | Inserm (FR) Human Genetic of Infectious Di… (FR) +1 | |
| 5 | Leandro Fernández‐Pérez | — | |
| 6 | Ariane L. A. Chapgier | Inserm (FR) Human Genetic of Infectious Di… (FR) +1 | |
| 7 | María Cárdenes | Canary Institute of Cancer Res… (ES) | — |
| 8 | Jacqueline M. Feinberg | Inserm (FR) Human Genetic of Infectious Di… (FR) +1 | — |
| 9 | M. Isabel García-Laorden | — | |
| 10 | Capucine Pïcard | Inserm (FR) Human Genetic of Infectious Di… (FR) +1 | |
| 11 | Esther Santiago | — | — |
| 12 | Xiao‐Fei Kong | Rockefeller University (US) | |
| 13 | Lucile Jannière | Inserm (FR) Human Genetic of Infectious Di… (FR) +1 | — |
| 14 | Elena Colino | — | |
| 15 | Estefanía Herrera‐Ramos | — | |
| 16 | Adela Francés | — | — |
| 17 | Carmen Navarrete | Hospital Roberto del Rio (CL) | |
| 18 | Stéphane Blanche | Hôpital Necker-Enfants Malades (FR) Assistance Publique – Hôpitaux… (FR) | |
| 19 | Emília Faria | — | |
| 20 | Paweł Remiszewski | — | — |
| 21 | Ana Isabel Cordeiro | Unidade Local de Saúde de Coim… (PT) | |
| 22 | Alexandra F. Freeman | National Institutes of Health (US) | |
| 23 | Steven M. Holland | National Institutes of Health (US) | |
| 24 | Katia Abarca V | Pontificia Universidad Católic… (CL) | |
| 25 | Mónica Valerón-Lemaur | — | — |
| 26 | José Gonçalo Marques | Centro Hospitalar Lisboa Norte (PT) | |
| 27 | Luisa Silveira | Hospital de Santo Espirito de … (PT) | — |
| 28 | José Manuel García-Castellano | Hospital Universitario Insular… (ES) | — |
| 29 | José Antonio Caminero | Hospital Universitario de Gran… (ES) | |
| 30 | José-Luís Pérez-Arellano | Universidad de Las Palmas de G… (ES) |
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