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Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases

Lookup NU author(s): Dr Zohreh Nademi, Dr Su Han Lum, Dr Terence Flood, Dr Mario Abinun, Dr Stephen Owens, Dr Eleri Williams, Professor Andrew GenneryORCiD, Professor Sophie HambletonORCiD, Professor Mary Slatter



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2021, Crown. Predisposition to mycobacterial infection is a key presenting feature of several rare inborn errors of intrinsic and innate immunity. Hematopoietic stem cell transplantation (HSCT) can be curative for such conditions, but published reports are few. We present a retrospective survey of the outcome of 11 affected patients (7 males, 4 females) who underwent HSCT between 2007 and 2019. Eight patients had disseminated mycobacterial infection prior to transplant. Median age at first transplant was 48 months (9 -192); three patients were successfully re-transplanted due to secondary graft failure. Donors were matched family (1), matched unrelated (3), and mismatched unrelated and haploidentical family (5 each). Stem cell source was peripheral blood (9), bone marrow (4), and cord blood (1). TCRαβ/CD19 + depletion was performed in 6. Conditioning regimens were treosulfan, fludarabine (4), with additional thiotepa (in 8), and fludarabine, melphalan (2); all had serotherapy with alemtuzumab (8) or anti T-lymphocyte globulin (6). Median hospital stay was 113 days (36–330). Three patients developed acute grade I-II skin and one grade IV skin graft versus host disease. Four patients had immune-reconstitution syndrome. Two reactivated cytomegalovirus (CMV), 1 Epstein-Barr virus, and 3 adenovirus post HSCT. Nine are alive, 1 died early post-transplant from CMV, and the other was a late death from pneumococcal sepsis. Patients with active mycobacterial infection at HSCT continued anti-mycobacterial therapy for almost 12 months. In conclusion, HSCT is a successful treatment for patients with mycobacterial susceptibility even with disseminated mycobacterial infection and in the absence of an HLA matched donor.

Publication metadata

Author(s): Radwan N, Nademi Z, Lum SH, Flood T, Abinun M, Owens S, Williams E, Gennery AR, Hambleton S, Slatter MA

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2021

Volume: 41

Pages: 1774-1780

Print publication date: 01/11/2021

Online publication date: 13/08/2021

Acceptance date: 29/07/2021

Date deposited: 26/08/2021

ISSN (print): 0271-9142

ISSN (electronic): 1573-2592

Publisher: Springer


DOI: 10.1007/s10875-021-01116-1


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