Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction‐Related Biomarkers in Food Protein‐Induced Enterocolitis Syndrome

This study represents the first case-control exome association study of FPIES patients and marks a crucial step towards unravelling genetic susceptibility factors underpinning the syndrome. Our findings highlight potential factors and pathways contributing to FPIES, including epithelial barrier dysfunction and immune dysregulation. While these results are novel, they are preliminary and need further validation in a second cohort of patients.

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Publication Details

Journal
Clinical & Experimental Allergy
Published
2024-09-30
DOI
https://doi.org/10.1111/cea.14564
Citations
6
Primary Topic
Food Allergy and Anaphylaxis Research
Type
article
Field-Weighted Citation Impact
2.30

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article

Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction‐Related Biomarkers in Food Protein‐Induced Enterocolitis Syndrome

Adrianna Machinena, Antonio Salas, Marta Vázquez‐Ortiz, Teresa Garriga‐Baraut et al.
6 citations
Clinical & Experimental Allergy
Food Allergy and Anaphylaxis Research
2.30
article

Whole Exome Sequencing Identifies Epithelial and Immune Dysfunction‐Related Biomarkers in Food Protein‐Induced Enterocolitis Syndrome

Adrianna Machinena, Antonio Salas, Marta Vázquez‐Ortiz, Teresa Garriga‐Baraut, Laura Argíz, Francesca Mori, Laia Alsina, Adnan Ćustović, Valentina Pecora, Robert J. Boyle, Sonsoles Infante, Sonia Vázquez‐Cortés, Santiago Quirce, Myrsini Kaforou, Mariona Pascal, Montserrat Fernández‐Rivas, Simona Barni, Carlos García‐Magán, Purificación González‐Delgado, Alba Camino‐Mera, Emilio García, Alberto Gómez‐Carballa, Ana Prieto, Teresa Bracamonte, Jacobo Pardo‐Seco, Alessandro Fiocchi, Federico Martinón‐Torres, Luis Eduardo Echeverría, Stefania Arasi, Leticia Vila, Jethro Herberg, Iria Carballeira, Xabier Bello, Giusi Mangone, Margarita Tomás‐Pérez, Marı́a José Torres, Virginia O'Valle‐Aísa, Noelia Lara Hernández‐Martínez, Gabriela Zambrano‐Ibarra, José Domingo Moure‐González
article en
6 citations

Abstract

This study represents the first case-control exome association study of FPIES patients and marks a crucial step towards unravelling genetic susceptibility factors underpinning the syndrome. Our findings highlight potential factors and pathways contributing to FPIES, including epithelial barrier dysfunction and immune dysregulation. While these results are novel, they are preliminary and need further validation in a second cohort of patients.

Clinical & Experimental AllergyVol. 54(11)
Hospital Sant Joan de Déu Barcelona (ES), Universidade de Santiago de Compostela (ES), Hospital General Universitario Gregorio Marañón (ES), Complejo Hospitalario Universitario de Santiago (ES), Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (ES), Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (ES), Vall d'Hebron Institut de Recerca (ES), Hospital Regional Universitario de Málaga (ES), Meyer Children's Hospital (IT), Hospital Clínic de Barcelona (ES), Bambino Gesù Children's Hospital (IT), Clinica Universidad de Navarra (ES), Hospital General Universitario de Alicante Doctor Balmis (ES), Instituto de Investigación Sanitaria de Santiago (ES), Andalusian Centre for Nanomedicine and Biotechnology (ES), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Servicio Gallego de Salud (ES), Hospital Universitario Severo Ochoa (ES), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Instituto de Investigación Biomédica de Málaga (ES), Complejo Hospitalario Universitario de Ferrol (ES), University of Florence (IT), Imperial College London (GB), Universitat de Barcelona (ES), Universidad de Málaga (ES)
European Commission, Australasian Centre for Italian Studies, Axencia Galega de Innovación, Medical Research Council, Instituto de Salud Carlos III
Zero hunger
Openalex Percentile: Top 11%
Food Allergy and Anaphylaxis Research
2.30
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