| Autor: |
Maccari, M.E., Abolhassani, H., Aghamohammadi, A., Aiuti, A., Aleinikova, O., Bangs, C., Baris, S., Barzaghi, F., Baxendale, H., Buckland, M., Burns, S.O., Cancrini, C., Cant, A., Cathebras, P., Cavazzana, M., Chandra, A., Conti, F., Coulter, T., Devlin, L.A., Edgar, J.D.M., Faust, S., Fischer, A., Prat, M.G., Hammarstrom, L., Heeg, M., Jolles, S., Karakoc-Aydiner, E., Kindle, G., Kiykim, A., Kumararatne, D., Grimbacher, B., Longhurst, H., Mahlaoui, N., Milota, T., Moreira, F., Moshous, D., Mukhina, A., Neth, O., Neven, B., Nieters, A., Olbrich, P., Ozen, A., Schmid, J.P., Picard, C., Prader, S., Rae, W., Reichenbach, J., Rusch, S., Savic, S., Scarselli, A., Scheible, R., Sediva, A., Sharapova, S.O., Shcherbina, A., Slatter, M., Soler-Palacin, P., Stanislas, A., Suarez, F., Tucci, F., Uhlmann, A., van Montfrans, J., Warnatz, K., Williams, A.P., Wood, P., Kracker, S., Condliffe, A.M., Ehl, S. |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| ISSN: |
1664-3224 |
| Popis: |
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal\ud dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary\ud immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical\ud and immunological manifestations, questions about long-term disease evolution and\ud response to therapy remain. The prospective European Society for Immunodeficiencies\ud (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors,\ud and evaluate treatment responses. So far, 77 patients have been recruited (51\ud APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early\ud occurrence of recurrent respiratory infections followed by chronic lymphoproliferation,\ud gastrointestinal manifestations, and cytopenias. Although most manifestations occur by\ud age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was\ud observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2\ud patients. By age 20, half of the patients had received at least one immunosuppressant,\ud but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response\ud to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9,\ud and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial,\ud 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and\ud cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative\ud manifestations should be a key target for novel therapies. This report from\ud the ESID-APDS registry provides comprehensive baseline documentation for a growing\ud cohort that will be followed prospectively to establish prognostic factors and identify\ud patients for treatment studies. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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