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Disparities in Diagnosis, Access to Specialist Care, and Treatment for Inborn Errors of Immunity
Indexado
WoS WOS:001170704400001
Scopus SCOPUS_ID:85177233979
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


Abstract



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.

Métricas Externas



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Disciplinas de Investigación



WOS
Immunology
Allergy
Scopus
Sin Disciplinas
SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



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

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Financiamiento



Fuente
National Institutes of Health
National Institute of Allergy and Infectious Diseases
Regeneron Pharmaceuticals
Jeffrey Modell Foundation
Takeda Pharmaceutical Company
Pharmacosmos Therapeutics

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos



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.

Muestra la fuente de financiamiento declarada en la publicación.