International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.

ABSTRACT:

Background

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT).

Objectives

This study sought to characterize HCT outcomes in APDS.

Methods

Retrospective data were collected on 57 patients with APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT.

Results

Pre-HCT comorbidities such as lung, gastrointestinal, and liver pathology were common, with hematologic malignancy in 26%. With median follow-up of 2.3 years, 2-year overall and graft failure-free survival probabilities were 86% and 68%, respectively, and did not differ significantly by APDS1 versus APDS2, donor type, or conditioning intensity. The 2-yea

SUBMITTER: Dimitrova D 

PROVIDER: S-EPMC8611111 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature