Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Fiche publication
Date publication
juin 2023
Journal
The Journal of allergy and clinical immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr D'AVENI-PINEY Maud
Tous les auteurs :
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarstrom L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcherbina A, Slatter MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan JL, Suarez F, Tommasini A, Trück J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl S,
Lien Pubmed
Résumé
Activated phosphoinositide-3-kinase (PI3K) δ Syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically overlapping with other conditions. Management depends on disease evolution, but predictors of severe disease are lacking.
Mots clés
APDS, CTLA-4, ESID, IEI, NFκB1, PI3K, PIK3CD, PIK3R1, STAT3, immunodeficiency
Référence
J Allergy Clin Immunol. 2023 06 28;: