Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a
STAT1
chronic mucocutaneous candidiasis (CMC)
gain-of-function pathogenic variant
severe aplastic anemia (SAA)
transplantation
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2024
2024
Historique:
received:
10
05
2024
accepted:
13
06
2024
medline:
8
8
2024
pubmed:
8
8
2024
entrez:
8
8
2024
Statut:
epublish
Résumé
Severe aplastic anemia (SAA) is a life-threatening bone marrow failure syndrome whose development can be triggered by environmental, autoimmune, and/or genetic factors. The latter comprises germ line pathogenic variants in genes that bring about habitually predisposing syndromes as well as immune deficiencies that do so only occasionally. One of these disorders is the autosomal dominant form of chronic mucocutaneous candidiasis (CMC), which is defined by germ line
Identifiants
pubmed: 39114664
doi: 10.3389/fimmu.2024.1430938
pmc: PMC11303233
doi:
Substances chimiques
STAT1 Transcription Factor
0
STAT1 protein, human
0
Types de publication
Journal Article
Case Reports
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1430938Informations de copyright
Copyright © 2024 Fink, Höpfl, Witsch-Baumgartner, Kropshofer, Martin, Fink, Heeg, Peters, Zschocke and Haas.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.