Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease
Manpreet Saini1, Alka R Khadwal1, Sayan S Roy1
1Clinical Hematology & Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, IND.
Cureus
|October 16, 2023
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.
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