Spanish Consensus on the Diagnosis and Management of Patients With Activated PI3K Delta Syndrome (APDS).
Por:
Neth O, Alsina L, Rivière JG, López-Granados E, Seoane-Reula ME, González Granado LI, Sánchez-Ramón S and Rodríguez-Gallego C
Publicada:
22 abr 2025
Ahead of Print:
3 mar 2025
Resumen:
Activated phosphoinositide 3-kinase (PI3K) delta syndrome (APDS) is an ultrarare genetic disorder characterized by overlapping immunodeficiency and immune dysregulation. Its diagnosis poses challenges owing to its clinical similarities with other inborn errors of immunity (IEIs), compounded by the absence of targeted treatments in today's medical landscape. The standard approach involves symptom management, reducing infection through immunoglobulin replacement therapy and prophylactic antimicrobials, and treating immune dysregulation with immunomodulators. This approach considerably hampers effective management of APDS, as the diverse nature of the disease necessitates a personalized strategy, in which the advantages and risks of immunosuppression are weighed against the potential for recurrent infections and lymphoproliferative complications. To address these challenges, a group of Spanish experts in the management of IEIs, including APDS, collaborated to develop Delphi-based consensus recommendations. The primary goal of the initiative was to offer guidance on various aspects of this complex disease, marking a pioneering effort in Europe. The consensus aims to facilitate early diagnosis and provide clues for individual patient-based decisions that could favor balanced risk-benefit estimations for treatment.
Filiaciones:
Neth O:
Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, IBiS /Universidad de Sevilla/CSIC, Red de Investigación Translacional en Infectología Pediátrica (RITIP) Sevill
Alsina L:
Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Study Group for Immune Disfunction Diseases in Children, Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Rivière JG:
Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain
Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Infantil i de la Dona Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain
López-Granados E:
Center for Biomedical Network Research on Rare Diseases (CIBERER U767), ISCIII, Madrid, Spain
Lymphocyte Pathophysiology in Immunodeficiencies Group, La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Clinical Immunology Department, La Paz University Hospital, Madrid, Spain
Seoane-Reula ME:
Primary Immunodeficiencies Unit, Pediatric Allergy and Immunology Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain
Laboratory of Immune-Regulation, Gregorio Marañón Health Research Institute (IISGM), Madrid, Spain
González Granado LI:
Primary Immunodeficiencies Unit, Pediatrics, Hospital 12 de Octubre, Research Institute Hospital 12 octubre (i+12), Madrid, Spain
School of Medicine, Universidad Complutense de Madrid, Madrid, Spain
Sánchez-Ramón S:
Department of Immunology, IML and IdSSC, Hospital Clínico San Carlos, Madrid, Spain, School of Medicine, Universidad Complutense de Madrid, Madrid, Spain
Rodríguez-Gallego C:
Department of Immunology, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
Department of Medical and Surgical Sciences, School of Medicine, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain
CIBER de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain
Mejía MA:
Hospital General Universitario Gregorio Marañón, Madrid, Spain
Belendez Bieler C:
Hospital General Universitario Gregorio Marañón, Madrid, Spain
Cardozo C:
Hospital Clinic, Barcelona
Colino Gil E:
Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas, Spain
Del Rosal T:
Hospital La Paz, Madrid, Spain
Deyà-Martinez A:
Hospital San Joan Déu, Barcelona, Spain
Diab L:
Hospital Doce de Octubre, Madrid, Spain
Domínguez-Pinilla N:
Hospital Doce de Octubre, Madrid, Spain
García-Soidán A:
Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas, Spain
Gimeno Díaz de Atauri A:
Hospital Doce de Octubre, Madrid, Spain
Martin Nalda A:
Hospital Universitario Vall d'Hebron, Barcelona, Spain
Montes-Ares O:
Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
Moral Moral P:
Hospital Universitario y Politécnico La Fe, Valencia, Spain
Murciano Carrillo T:
Pediatric Hematology and Oncology Department, Hospital Universitario Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Nuñez-Beltran M:
Hospital Universitario y Politécnico La Fe, Valencia, Spain
Ocejo-Vinyals G:
Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain
Olbrich P:
Hospital Universitario Virgen del Rocío, Sevilla, Spain
García AP:
Hospital San Joan Déu, Barcelona, Spain
Ramakers J:
Department of Pediatrics, Hospital Universitari Son Espases. Multidisciplinary Group for Research in Pediatrics, Hospital Universitari Son Espases
Balearic Islands Health Research Institute (IdISBa), Palma, Spain
Rodríguez Pena R:
Hospital La Paz, Madrid, Spain
Sabado C:
Hospital Universitario Vall d'Hebron, Barcelona, Spain
Solanich X:
Hospital Universitario Bellvitge, L'Hospitalet del Llobregat, Spain
Soler Palacín P:
Hospital Universitario Vall d'Hebron, Barcelona, Spain
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