dc.creator | Maccari, Maria Elena | es |
dc.creator | Abolhassani, H. | es |
dc.creator | Aghamohammadi, A | es |
dc.creator | Aiuti, A, | es |
dc.creator | Aleinikova, O. | es |
dc.creator | Bangs, C. | es |
dc.creator | Olbrich, Peter | es |
dc.creator | Ehl, S. | es |
dc.date.accessioned | 2024-05-21T15:30:51Z | |
dc.date.available | 2024-05-21T15:30:51Z | |
dc.date.issued | 2018-03 | |
dc.identifier.citation | Maccari, M.E., Abolhassani, H., Aghamohammadi, A., Aiuti, A., Aleinikova, O., Bangs, C.,...,Ehl, S. (2018). Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry. Frontiers In Immunology, 9 (Mar), 543. https://doi.org/10.3389/fimmu.2018.00543. | |
dc.identifier.issn | 1664-3224 | es |
dc.identifier.uri | https://hdl.handle.net/11441/158770 | |
dc.description.abstract | 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. | es |
dc.format | application/pdf | es |
dc.format.extent | 8 p. | es |
dc.language.iso | eng | es |
dc.publisher | Frontiers Media S.A. | es |
dc.relation.ispartof | Frontiers In Immunology, 9 (Mar), 543. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Activated phosphoinositide 3-kinase δ syndrome | es |
dc.subject | PIK3CD | es |
dc.subject | PIK3R1 | es |
dc.subject | Registry | es |
dc.subject | Natural history | es |
dc.subject | Rapamycin | es |
dc.title | Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Farmacología, Pediatría y Radiología | es |
dc.relation.publisherversion | https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2018.00543/full | es |
dc.identifier.doi | 10.3389/fimmu.2018.00543 | es |
dc.journaltitle | Frontiers In Immunology | es |
dc.publication.volumen | 9 | es |
dc.publication.issue | Mar | es |
dc.publication.initialPage | 543 | es |