Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

Conflict of interest statement

The authors have declared that no competing interests exist.

Similar articles

See all similar articles

References

    1. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. Stephan JL, Vlekova V, Le Deist F, et al. J Pediatr. 1993;123:564–572. - PubMed
    1. Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires. Frizinsky S, Rechavi E, Barel O, et al. Front Pediatr. 2022;10:883173. - PMC - PubMed
    1. Serial serum immunoglobulin G (IgG) trough levels in patients with X-linked agammaglobulinemia on replacement therapy with intravenous immunoglobulin: its correlation with infections in Indian children. Suri D, Bhattad S, Sharma A, et al. J Clin Immunol. 2017;37:311–318. - PubMed
    1. EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity. Lankester AC, Albert MH, Booth C, et al. https://doi.org/10.1038/s41409-021-01378-8. Bone Marrow Transplant. 2021;56:2052–2062. - PMC - PubMed
    1. Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India. Aluri J, Italia K, Gupta M, Dalvi A, Bavdekar A, Madkaikar M. Blood Cells Mol Dis. 2017;65:95–96. - PubMed

Publication types

LinkOut - more resources