Genomics

Dataset Information

0

Functional impact of IRF4 mutations on genomic binding and transcription in patient-derived B-EBV cells


ABSTRACT: An IRF4 de novo mutation affecting the DNA binding domain of encoded IRF4 protein (mutDBD) was identified in a patient presenting with combined immunodeficiency. The patient exhibited profound susceptibility to opportunistic infections notably Pneumocystis jirovecii and humoral immunodeficiency caused by a failure of terminal B cell differentiation. A heterozygous IRF4 missense variant resulting in a phenylalanine-to-leucine replacement within the interferon activation domain of the encoded IRF4 protein (mutIAD) was identified in three patients from a multigenerational family suffering from a novel autosomal dominant disease predominantly presenting as a hypogammaglobulinemia with recurrent infections. In these experiments we aimed to investigate the effect of the two different mutations on IRF4 genomic binding and regulated transcription. This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE199686 | GEO | 2023/03/06

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2023-03-06 | GSE199685 | GEO
2023-03-06 | GSE199684 | GEO
2023-03-06 | GSE214888 | GEO
| PRJNA782857 | ENA
2010-09-25 | E-GEOD-24343 | biostudies-arrayexpress
| PRJNA648092 | ENA
| PRJNA647920 | ENA
| PRJNA648096 | ENA
2024-11-24 | GSE267600 | GEO
| PRJNA936793 | ENA