Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease
Overview
Overview
Authors
Affiliations
Affiliations
Soon will be listed here.
Abstract
Severe combined immunodeficiency (SCID) is an inborn error of immunity invariably resulting in mortality in infancy until managed by hematopoietic stem cell transplant (HSCT). We present an unusual case of SCID with a rare mutation involving the non-homologous end-joining 1 (NHEJ1) gene, where a haploidentical HSCT was carried out with modified conditioning and graft versus host prophylaxis regimen using proteasome inhibitor bortezomib with a successful outcome.
References
1.
Stephan J, Vlekova V, Le Deist F, Blanche S, Donadieu J, de Saint-Basile G
. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993; 123(4):564-72.
DOI: 10.1016/s0022-3476(05)80951-5.
View
2.
Wolska-Kusnierz B, Gennery A
. Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders. Front Pediatr. 2020; 7:557.
PMC: 6974535.
DOI: 10.3389/fped.2019.00557.
View
3.
Mohty M, Brissot E, Savani B, Gaugler B
. Effects of bortezomib on the immune system: a focus on immune regulation. Biol Blood Marrow Transplant. 2013; 19(10):1416-20.
DOI: 10.1016/j.bbmt.2013.05.011.
View
4.
Aluri J, Italia K, Gupta M, Dalvi A, Bavdekar A, Madkaikar M
. Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India. Blood Cells Mol Dis. 2016; 65:95-96.
DOI: 10.1016/j.bcmd.2016.10.022.
View
5.
Lankester A, Albert M, Booth C, Gennery A, Gungor T, Honig M
. EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity. Bone Marrow Transplant. 2021; 56(9):2052-2062.
PMC: 8410590.
DOI: 10.1038/s41409-021-01378-8.
View