Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa

Published:2023-09-01 Issue:6 Volume:189 Page:774-776
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Sacedón Rosa¹²^ORCID,de Arriba M Carmen³^ORCID,Martínez-Santamaría Lucía³^ORCID,Maseda Rocío⁴^ORCID,Herráiz-Gil Sara³^ORCID,Jiménez Eva¹²^ORCID,Rosales Isabel¹²,Quintana Lucía⁴^ORCID,Illera Nuria³^ORCID,García Marta³^ORCID,Butta Nora⁵^ORCID,Fernández-Bello Ihosvany⁵^ORCID,Lwin Su M⁶^ORCID,Fernández-Arquero Miguel⁷,León Carlos³^ORCID,McGrath John A⁶^ORCID,Vicente M Ángeles¹²^ORCID,del Río Marcela³^ORCID,de Lucas Raúl⁴^ORCID,Sánchez-Ramón Silvia⁷^ORCID,Escámez María José³^ORCID

Affiliation:

1. Departamento de Biología Celular, Facultad de Medicina, Universidad Complutense , Madrid

2. Instituto de Investigación Sanitaria

3. Departamento de Bioingeniería, Universidad Carlos III de Madrid; Centro de Investigación Biomédica en Red de Enfermedades Raras-ISCIII; Instituto de Investigación Sanitaria Fundación Jiménez Diaz; Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas , Madrid

4. Servicio de Dermatología

5. Servicio de Hematología y Hemoterapia, Instituto de Investigación Sanitaria del Hospital Universitario La Paz (IdiPAZ); Hospital Universitario La Paz , Madrid , Spain

6. St John’s Institute of Dermatology, King’s College London , London , UK

7. Department of Immunology, IML and IdISSC, Hospital Clínico San Carlos (IdISSC) , Madrid

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a blistering genodermatosis due to biallelic loss-of-function variants in the type VII collagen (C7) gene (COL7A1). We report the impact of inflammation/autoimmunity on the gut (and other organs) in the nine children with RDEB recruited to an early-phase clinical trial of systemic cell therapy (NCT04153630). This pilot study provides evidence that autoimmunity may play an important role in sustaining chronic inflammation and the coexistence of coeliac disease, which, in turn, could exacerbate anaemia/malnutrition and progression in RDEB. Testing this hypothesis in a larger cohort including children and adults with RDEB and other epidermolysis bullosa (EB) subtypes is warranted so that targeted interventions may improve outcomes.

Funder

Institute of Health Carlos III

European Union

patient advocacy groups DEBRA-Spain and Berritxuak

Spanish Ministry of Science and Innovation and European Regional Development Fund

DEBRA Austria

DEBRA

EB-LOPPET

EB Research Network

UC3M-PhD research training scholarship

Publisher

Oxford University Press (OUP)