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Case Reports
. 2023 Sep 13;15(9):e45159.
doi: 10.7759/cureus.45159. eCollection 2023 Sep.

Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease

Manpreet Saini  1 , Alka R Khadwal  1 , Sayan S Roy  1 , Vignesh Pandiarajan  2 , Pankaj Malhotra  1
Affiliations
Case Reports

Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease

Manpreet Saini et al. Cureus. .

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.

Keywords: acute graft vs host disease; haploidentical transplant; hematopoietic stem cell transplantation (hsct); non-homologous end joining gene; primary immunodeficiency disease; radiosensitive severe combined immunodeficiency disease; scid; severe combined immunodeficiency disease.

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Conflict of interest statement

The authors have declared that no competing interests exist.

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