Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1

The Journal of Allergy and Clinical Immunology
Tsubasa OkanoTomohiro Morio

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·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
Sep 12, 2019·Frontiers in Pediatrics·Ottavia Maria DelmonteLuigi Daniele Notarangelo
Oct 30, 2020·The Journal of Immunology : Official Journal of the American Association of Immunologists·Nieves DiazSven Kracker
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 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
Jul 13, 2021·Frontiers in Pediatrics·Romane ThouenonSven Kracker
Aug 6, 2021·Frontiers in Pediatrics·Marketa BloomfieldAnna Sediva
Jul 29, 2021·Science Signaling·Ivan K ChinnKirk M Druey
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

❮ Previous
Next ❯

Related Concepts

Related Feeds

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

AKT Pathway

This feed focuses on the AKT serine/threonine kinase, which is an important signaling pathway involved in processes such as glucose metabolism and cell survival.