Abstract
Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined. Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. We reviewed retrospectively the medical records of cohorts undergoing HSCT at collaborating facilities. Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced-intensity conditioning. Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT. Patients with APDS1 sho...Continue Reading
Citations
May 22, 2019·Clinical Reviews in Allergy & Immunology·Mahnaz JameeGholamreza Azizi
Jan 4, 2020·Journal of Pediatric Gastroenterology and Nutrition·Judith R KelsenAndrew B Grossman
Jan 17, 2020·Blood·Ottavia M DelmonteLuigi D Notarangelo
Jan 17, 2020·Blood·Anne Durandy, Sven Kracker
Mar 27, 2019·Journal of Clinical Immunology·Stuart G TangyeElissa K Deenick
Aug 24, 2019·Frontiers in Pediatrics·Riccardo CastagnoliLuigi Daniele Notarangelo
Mar 11, 2020·Frontiers in Immunology·Alice Y ChanTroy R Torgerson
Feb 23, 2020·Journal of Pediatric Gastroenterology and Nutrition·Judith R KelsenAndrew B Grossman
Sep 12, 2019·Frontiers in Pediatrics·Ottavia Maria DelmonteLuigi Daniele Notarangelo
Oct 22, 2020·Journal of Clinical Medicine·Giulio TessarinVassilios Lougaris
Oct 30, 2020·The Journal of Immunology : Official Journal of the American Association of Immunologists·Nieves DiazSven Kracker
Jan 7, 2021·Immunological Investigations·Saba FekrvandAsghar Aghamohammadi
Feb 3, 2021·Journal of Clinical Immunology·Akira NishimuraTomohiro Morio
Sep 16, 2018·The Journal of Allergy and Clinical Immunology·Luigi D Notarangelo
May 8, 2019·The Journal of Allergy and Clinical Immunology·Cristiane J Nunes-SantosSergio D Rosenzweig
May 28, 2021·The Journal of International Medical Research·Xiaojing ZhangJianhua Mao
May 31, 2021·Current Opinion in Immunology·Nina N Brodsky, Carrie L Lucas
May 26, 2021·The Journal of Allergy and Clinical Immunology·Dimana DimitrovaJennifer A Kanakry
Jun 23, 2021·Expert Review of Clinical Immunology·Tina NguyenStuart G Tangye
Jul 13, 2021·Frontiers in Pediatrics·Romane ThouenonSven Kracker
Jul 13, 2021·Frontiers in Immunology·Danielle E ArnoldJennifer W Leiding
Aug 6, 2021·Frontiers in Pediatrics·Marketa BloomfieldAnna Sediva
Jul 29, 2021·Science Signaling·Ivan K ChinnKirk M Druey
Aug 24, 2021·Frontiers in Pediatrics·Vyanka Redenbaugh, Tanya Coulter
Jun 1, 2021·Journal of Pediatric Hematology/oncology·Stephen A SchworerEveline Y Wu
Oct 25, 2021·The Journal of Allergy and Clinical Immunology·Neha SethJavier Chinen
Oct 10, 2019·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·Ottavia Maria Delmonte, Luigi Daniele Notarangelo