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https://hdl.handle.net/10495/40494| Título : | The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee |
| Autor : | Franco Restrepo, José Luis Tangye, Stuart G Al-Herz, Waleed Bousfiha, Aziz Cunningham Rundles, Charlotte Holland, Steven M Klein, Christoph Morio, Tomohiro Oksenhendler, Eric Picard, Capucine Puel, Anne Puck, Jennifer Seppänen, Mikko R J Somech, Raz Su, Helen C Sullivan, Kathleen E Torgerson, Troy R Meyts, Isabelle |
| metadata.dc.subject.*: | Alleles Alelos Diagnosis, Differential Diagnóstico Diferencial COVID-19 Disease Management Manejo de la Enfermedad Genetic Association Studies Estudios de Asociación Genética Genetic Predisposition to Disease Predisposición Genética a la Enfermedad Genotype Genotipo Immunity Inmunidad Inheritance Patterns Patrón de Herencia Phenotype Fenotipo Primary Immunodeficiency Diseases Enfermedades de Inmunodeficiencia Primaria Public Health Surveillance Vigilancia en Salud Pública Risk Factors Factores de Riesgo https://id.nlm.nih.gov/mesh/D000483 https://id.nlm.nih.gov/mesh/D003937 https://id.nlm.nih.gov/mesh/D000086382 https://id.nlm.nih.gov/mesh/D019468 https://id.nlm.nih.gov/mesh/D056726 https://id.nlm.nih.gov/mesh/D020022 https://id.nlm.nih.gov/mesh/D005838 https://id.nlm.nih.gov/mesh/D007109 https://id.nlm.nih.gov/mesh/D040582 https://id.nlm.nih.gov/mesh/D010641 https://id.nlm.nih.gov/mesh/D000081207 https://id.nlm.nih.gov/mesh/D062486 https://id.nlm.nih.gov/mesh/D012307 |
| Fecha de publicación : | 2021 |
| Editorial : | Springer |
| Citación : | Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. J Clin Immunol. 2021 Apr;41(3):666-679. doi: 10.1007/s10875-021-00980-1 |
| Resumen : | ABSTRACT: The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects. |
| metadata.dc.identifier.eissn: | 1573-2592 |
| ISSN : | 0271-9142 |
| metadata.dc.identifier.doi: | 10.1007/s10875-021-00980-1 |
| Aparece en las colecciones: | Artículos de Revista en Ciencias Médicas |
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| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| FrancoJose_2021_Ever_Increasing_Array.pdf | Artículo de revisión | 437.41 kB | Adobe PDF | Visualizar/Abrir |
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