Haploidentical Transplant in Radiosensitive Severe Combined Immunodeficiency Disease

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 hap...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2023-09, Vol.15 (9)
Main Authors: Saini, Manpreet, Khadwal, Alka R, Roy, Sayan S, Pandiarajan, Vignesh, Malhotra, Pankaj
Format: Article
Language:English
Subjects:
Babies
Case reports
Cytomegalovirus
Failure to thrive
Hematology
Lymphocytes
Mutation
Pediatrics
Stem cell transplantation
Transplantation
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.45159