RT Journal Article
T1 Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
A1 Maccari, Maria Elena
A1 Abolhassani, Hassan
A1 Aghamohammadi, Asghar
A1 Aiuti, Alessandro
A1 Aleinikova, Olga
A1 Bangs, Catherine
A1 Baris, Safa
A1 Barzaghi, Federica
A1 Baxendale, Helen
A1 Buckland, Matthew
A1 Burns, Siobhan O
A1 Cancrini, Caterina
A1 Cant, Andrew
A1 Cathebras, Pascal
A1 Cavazzana, Marina
A1 Chandra, Anita
A1 Conti, Francesca
A1 Coulter, Tanya
A1 Devlin, Lisa A
A1 Edgar, J David M
A1 Faust, Saul
A1 Fischer, Alain
A1 Garcia-Prat, Marina
A1 Hammarström, Lennart
A1 Heeg, Maximilian
A1 Jolles, Stephen
A1 Karakoc-Aydiner, Elif
A1 Kindle, Gerhard
A1 Kiykim, Ayca
A1 Kumararatne, Dinakantha
A1 Grimbacher, Bodo
A1 Longhurst, Hilary
A1 Mahlaoui, Nizar
A1 Milota, Tomas
A1 Moreira, Fernando
A1 Moshous, Despina
A1 Mukhina, Anna
A1 Neth, Olaf
A1 Neven, Benedicte
A1 Nieters, Alexandra
A1 Olbrich, Peter
A1 Ozen, Ahmet
A1 Pachlopnik-Schmid, Jana
A1 Picard, Capucine
A1 Prader, Seraina
A1 Rae, William
A1 Reichenbach, Janine
A1 Rusch, Stephan
A1 Savic, Sinisa
A1 Scarselli, Alessia
A1 Scheible, Raphael
A1 Sediva, Anna
A1 Sharapova, Svetlana O
A1 Shcherbina, Anna
A1 Slatter, Mary
A1 Soler-Palacin, Pere
A1 Stanislas, Aurelie
A1 Suarez, Felipe
A1 Tucci, Francesca
A1 Uhlmann, Annette
A1 van-Montfrans, Joris
A1 Warnatz, Klaus
A1 Williams, Anthony Peter
A1 Wood, Phil
A1 Kracker, Sven
A1 Condliffe, Alison Mary
A1 Ehl, Stephan
K1 PIK3CD
K1 PIK3R1
K1 activated phosphoinositide 3-kinase δ syndrome
K1 natural history
K1 rapamycin
K1 registry
AB Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2-3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies.
PB Frontiers Research Foundation
SN 1664-3224
YR 2018
FD 2018-03-16
LK http://hdl.handle.net/10668/12286
UL http://hdl.handle.net/10668/12286
LA en
NO Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, et al. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Front Immunol. 2018 Mar 16;9:543.
DS RISalud
RD Apr 11, 2025