RNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.
Ontology highlight
ABSTRACT:
PROVIDER: PRJEB35456 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| ERR3671060_1.fastq.gz | Fastqsanger.gz | |||
| ERR3671060_2.fastq.gz | Fastqsanger.gz | |||
| ERR3671070_1.fastq.gz | Fastqsanger.gz | |||
| ERR3671070_2.fastq.gz | Fastqsanger.gz | |||
| ERR3671080_1.fastq.gz | Fastqsanger.gz |
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Project description:The study describes two independent cases of NCKAP1L-deficiency, both carrying homozygous non-sense or splice variants in the NCKAP1L gene. The patients presented a phenotype of immunodeficiency, lymphoproliferation and hyperinflammation with features of Hemophagocytic Lymphohistiocytosis (HLH).
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