Hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity and Malignancy

Abstract

AbstractThe number of inborn errors of immunity (IEI) identified due to monogenic mutations has rapidly increased with the genomic revolution. Affected patients have an increased risk of developing malignancy compared to the normal population. The treatment of these malignancies is challenging due to the underlying diseases themselves and associated co-morbidities.Outcome of hematopoietic stem cell transplantation (HSCT) for patients with IEI has dramatically improved in the last 10–15 years, both in terms of survival and long-term good quality of immune reconstitution leading to improved quality of life. It is important to identify patients with IEI who have a malignancy to direct treatment of the malignancy itself appropriately and the approach to HSCT. A successful outcome can be achieved even in these patients with a multi-disciplinary team including Immunologists, Oncologists and transplanters. Many patients with IEI may benefit from pre-emptive HSCT to decrease the risk of malignancy or if they have had a previously treated malignancy, HSCT may reduce the risk of a second malignancy.This review will outline successes in the field of HSCT for IEI, and specifically consider HSCT in the context of treatment and prevention of malignancy.KeywordsHematopoietic stem cell transplantationInborn errors of immunityMalignancy