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Hematopoietic Stem Cell Transplantation in Late‐onset X‐linked Chronic Granulomatous Disease in a Female Carrier

Trevisan M
•
Kang EM
•
Salton F
altro
Confalonieri M.
2022
  • journal article

Periodico
JOURNAL OF CLINICAL IMMUNOLOGY
Abstract
Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder characterized by a defective NADPH oxidase complex leading to an impaired respiratory burst and defective killing of pathogens by phagocytes. The most common type of CGD is caused by hemizygous mutations of the CYBB gene on the X chromosome encoding the gp91phox subunit. It usually affects males, yet heterozygous females may rarely manifest clinical signs of the disease due to skewed X chromosome inactivation in leukocytes . Despite advances in gene therapy, hematopoietic stem cell transplantation (HSCT) remains the main definitive treatment. Older patients, however, are at greater risk of HSCT-related complications and mortality and may require a specific approach.
DOI
10.1007/s10875-022-01310-9
WOS
WOS:000819260400001
Archivio
https://hdl.handle.net/11368/3025164
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133776731
https://link.springer.com/article/10.1007/s10875-022-01310-9
Diritti
open access
license:copyright editore
license:digital rights management non definito
license uri:iris.pri02
license uri:iris.pri00
FVG url
https://arts.units.it/request-item?handle=11368/3025164
Soggetti
  • Chronic Granulomatous...

  • Hematopoietic Stem Ce...

  • Interferon-gamma

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