Muestra métricas de impacto externas asociadas a la publicación. Para mayor detalle:
| Indexado |
|
||||
| DOI | 10.1016/J.JAIP.2023.10.041 | ||||
| Año | 2024 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the immune system. Significant advances have been made in recent years in diagnosis, including using genetic testing and newborn screening; treatment, including precision therapies, gene therapy, and hematopoietic stem cell transplant; and the development of patient registries to inform prevalence, understand the morbidity of these disorders, and guide the development of clinical trials. However, significant disparities owing to age, race, ethnicity, socioeconomic status, or geographic location exist in all aspects of care of patients with inborn errors of immunity, beginning with delays in diagnosis and further compounded by impaired access to specialist care and treatment, leading to a notable impact on outcomes including morbidity and mortality. Addressing and correcting these disparities will require coordinated, deliberate, and prolonged effort. Proposed strategies to improve equity at different levels include public health measures such as implementing universal newborn screening, supporting expanded health insurance coverage for diagnostic testing and treatment, improving access to novel therapeutics in low- and middle-income countries, and developing artificial intelligence and machine learning tools to reduce delays in diagnosis, particularly in rural or less developed areas where access to specialist care is limited.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Lawrence, Monica G. | - |
University of Virginia School of Medicine - Estados Unidos
UNIV VIRGINIA - Estados Unidos |
| 2 | Rider, Nicholas L. | Hombre |
Liberty University College of Osteopathic Medicine - Estados Unidos
Collaborative Health Partners - Estados Unidos Liberty Univ - Estados Unidos Collaborat Hlth Partners - Estados Unidos |
| 3 | Cunningham-Rundles, Charlotte | Mujer |
Icahn School of Medicine at Mount Sinai - Estados Unidos
Icahn Sch Med Mt Sinai - Estados Unidos |
| 4 | POLI-HARLOWE, MARIA CECILIA | Mujer |
Universidad del Desarrollo - Chile
Hospital de Niños Roberto del Río - Chile Hosp Ninos Dr Roberto Rio - Chile |
| Fuente |
|---|
| National Institutes of Health |
| National Institute of Allergy and Infectious Diseases |
| Regeneron Pharmaceuticals |
| Jeffrey Modell Foundation |
| Takeda Pharmaceutical Company |
| Pharmacosmos Therapeutics |
| Agradecimiento |
|---|
| Conflicts of interest: M.G. Lawrence receives research funding from the National Institutes of Health / National Institute of Allergy and Infectious Diseases , Takeda Pharmaceuticals , Regeneron Pharmaceuticals , and the Jeffrey Modell Foundation , and serves as a consultant for Pharmacosmos Therapeutics. N.L. Rider receives research funding from the National Institutes of Health (National Institute of Allergy and Infectious Diseases R21 AI164100), Takeda Pharmaceuticals, and the Jeffrey Modell Foundation; serves on scientific advisory boards for Takeda, Pharming Healthcare, and CSL Behring; and receives royalties from Wolters Kluwer for contributions to UpToDate. C. Cunningham-Rundles has been involved in a clinical trial for a device for CSL Behring, is working on a research study for Jounce, is on advisory boards for Pharming and X4, and is on a data safety monitoring board for Otsuka. The other author declares no relevant conflicts of interest. |