IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
Front Pediatr
; 12: 1345730, 2024.
Article
en En
| MEDLINE
| ID: mdl-38813543
ABSTRACT
Heterozygous germline variants in human IKZF1 encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel IKZF1 variants leading to haploinsufficiency from 3 centers in Germany. We also provide an overview of first symptoms to a final diagnosis including data from the literature.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Front Pediatr
Año:
2024
Tipo del documento:
Article
País de afiliación:
Alemania