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. 2020 Mar;56(3):379-383.
doi: 10.1111/jpc.14621. Epub 2019 Sep 3.

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

Hany Ariffin  1   2 , Syaza Ab Rahman  2 , Vida Jawin  1   2 , Jen Chun Foo  1   2 , Nur Faizana Amram  2 , Nur Mahirah Mahmood  1 , Tsiao Yi Yap  1   2 , Revathi Rajagopal  1   2 , Su Han Lum  2 , Lee Lee Chan  3 , Hai Peng Lin  3
Affiliations

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

Hany Ariffin et al. J Paediatr Child Health. 2020 Mar.

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.

Keywords: haematopoietic stem cell transplantation; immunity; immunologic deficiency syndrome; inborn genetic disease.

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References

    1. Picard C, Bobby Gaspar H, Al-Herz W et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J. Clin. Immunol. 2018; 38: 96-128.
    1. Casanova JL, Abel L. Inborn errors of immunity to infection: The rule rather than the exception. J. Exp. Med. 2005; 202: 197-201.
    1. Pham-Huy A. Inborn errors of immunity: The missing link in infectious diseases susceptibility. JAMMI 2019; 4: 51-4.
    1. Kang E, Gennery AR. Hematopoietic stem cell transplantation for primary immunodeficiencies. Hematol. Oncol. Clin. North Am. 2014; 28: 1157-70.
    1. Slatter MA, Gennery AR. Hematopoietic cell transplantation in primary immunodeficiency - Conventional and emerging indications. Expert Rev. Clin. Immunol. 2018; 14: 103-14.

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