1. Inicio
  2. Publicaciones
  3. Spanish Consensus on the Diagnosis and Management of Patients With Activated PI3K Delta Syndrome (APDS)

Spanish Consensus on the Diagnosis and Management of Patients With Activated PI3K Delta Syndrome (APDS)

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Neth O.
  • Alsina L.
  • Rivière J.G.
  • López-Granados E.
  • Seoane-Reula M.E.
  • González Granado L.I.
  • Sánchez-Ramón S.
  • Rodríguez-Gallego C.
  • Mejía M.A.
  • Belendez Bieler C.
  • Cardozo C.
  • Colino Gil E.
  • Del Rosal T.
  • Deyà Martinez A.
  • Diab L.
  • Domínguez-Pinilla N.
  • García-Soidán A.
  • Gimeno Díaz de Atauri A.
  • Martin Nalda A.
  • Montes-Ares O.
  • Murciano Carrillo T.
  • Ocejo-Vinyals G.
  • Olbrich P.
  • García A.P.
  • Ramakers J.
  • Rodríguez Pena R.
  • Sabado C.
  • Solanich X.
  • Soler Palacín P.

Grupos

Abstract

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. © 2025 Esmon Publicidad.

Datos de la publicación

ISSN/ISSNe:
1018-9068, 1698-0808

JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY  ESMON PUBLICIDAD S A, DEPT ALLERGY & CLIN IMMUNOL, CLIN UNIV NAVARRA

Tipo:
Review
Páginas:
87-102
PubMed:
40028901
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
0,692 SCImago ℠
Cuartil:
Q3 SCImago ℠

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Keywords

  • Activated PI3K-delta Syndrome; Class I Phosphatidylinositol 3-Kinases; Consensus; Disease Management; Humans; Immunologic Deficiency Syndromes; Primary Immunodeficiency Diseases; Spain; immunomodulating agent; phosphatidylinositol 3 kinase; phosphatidylinositol 4,5 bisphosphate 3 kinase; adult; aged; antimicrobial activity; consensus; diagnosis; drug therapy; early diagnosis; human; immune deficiency; immune dysregulation; immunosuppressive treatment; lymphoproliferative disease; personalized medicine; recurrent infection; recurrent virus infection; review; Spaniard; substitution therapy; therapy; consensus; disease management; genetics; immune deficiency; Spain

Cita

Compartir