Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the
PRF1 gene
compound heterozygosity
primary HLH
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Feb 2024
27 Feb 2024
Historique:
received:
23
12
2023
revised:
12
02
2024
accepted:
23
02
2024
medline:
13
3
2024
pubmed:
13
3
2024
entrez:
13
3
2024
Statut:
epublish
Résumé
Hemophagocytic lymphohistiocytosis (HLH) is a rare but in most cases life-threatening immune-mediated disease of the hematopoietic system frequently associated with hematologic neoplasms. Here, we report on a case in which we detected a novel constellation of two missense variants affecting the
Identifiants
pubmed: 38474010
pii: ijms25052762
doi: 10.3390/ijms25052762
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM