Haematopoietic stem cell transplantation for inborn errors of immunity: 25‐year experience from University of Malaya Medical Centre, Malaysia

Abstract

Aim Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25‐year audit of HSCT for IEI at a tertiary‐level academic hospital in Malaysia. Methods Review of medical records of all cases of IEI who underwent HSCT between January 1993 and December 2018 at our centre. Diagnoses, complications, HSCT protocols and outcome data were studied. Results There were 20 patients (19 boys) with a median age at diagnosis of 11 months (range: 2 months to 12 years). Eleven of 19 (58%) had malnutrition at presentation. Donor sources were variable: 13 (65%) matched sibling donor (MSD), 4 (20%) human leukocyte antigen‐haploidentical donor (HD) and 3 (15%) matched unrelated donor (MUD). Conditioning regimens were physician‐dependent and adapted to each patient's clinical status. Grades III–IV acute graft‐versus‐host disease occurred in two of three cases who received MUD grafts, 50% in those who received HD, and 8% in the MSD group. Transplant‐related mortality at day +100 was 5%. With a median follow‐up of 7.5 years, 18 (90%) patients are alive and free of infections. Conclusion Outcome of HSCT for IEI in our centre is comparable with international reports. HSCT results using HD and MUD grafts are also good despite challenges from acute graft‐versus‐host disease, providing a feasible alternative for patients without matched donors.

Severe Combined Immunodeficiency in Malaysia: It’s Time to Shape a Future with No-One Left Behind

“…However, the medical challenge is compounded by the absence of an HLA-matched sibling which occurs in 70-80% of individuals. In Malaysian setting, the probability of finding a matched-unrelated donor from the national donor registry is only 2-5%, due to a relatively small registry pool and ethnic heterogeneity (9). Stem cell transplant using an HLA-partially matched family donor, also referred to as haploidentical transplants, are increasingly being utilised.…”

“…The first haploidentical parental BMT for SCID was performed in Malaysia in 2015 (6). Between April 2016 and December 2017, three patients with SCID underwent haploidentical transplants from a parental donor and one patient received an HLAmatched sibling HSCT, all with good outcomes (9). Subsequently, more SCID patients underwent HCST either using haploidentical donor or matched sibling donor.…”

“…Subsequently, more SCID patients underwent HCST either using haploidentical donor or matched sibling donor. HSCT for PID is currently a feasible curative option in Malaysia and the latest report demonstrated a 90% overall survival for most types of PIDs (9). Newborn screening (NBS) for SCID can identify infants before they get infections.…”