International Retrospective Study of Allogeneic Hematopoietic Cell Transplantation (HCT) for Activated Phosphoinositide 3-Kinase Delta (PI3K) Syndrome

Mutations resulting in increased PI3K signaling confer increased risk of B cell lymphoma, recurrent infections, poor viral control, and autoimmunity. Allogeneic HCT is curative, but the optimal approach to HCT for these patients is still evolving as experience grows. Herein, we present the clinical outcomes of 27 patients transplanted for activating PI3K mutations. Required approvals were obtained by contributing centers.Nineteen PIK3CD patients and 8 PIK3R1 patients received 22 and 10 HCTs respectively, at median age 12 years (range 2-66) at time of first HCT.

Source: Biology of Blood and Marrow Transplantation - January 24, 2020 Category: Hematology Authors: Dimana Dimitrova, Zohreh Nademi, Maria Elena Maccari, Stephan Ehl, Arjan C. Lankester, Andrew Gennery, Gulbu Uzel, Alexandra Laberko, Anna Mukhina, Winnie Ip, Kanchan Rao, Austen J.J. Worth, Carsten Speckmann, Claudia Wehr, Hassan Abolhassani, Asghar Agha Tags: 15 Source Type: research