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SIDRA

GXB

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Description

Dataset with samples from Individuals with:

A- Defects in Intrinsic and Innate Immunity:

1)- Herpes simplex encephalitis (HSE): UNC93B1 deficiency, Phenotype OMIM number 610551

2)- Predisposition to severe viral infection: IRF7 deficiency, Phenotype OMIM number Not yet assigned

see PID classification: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659841/

- AR : Autosomal Recessive

Purpose

IRF7 plays a critical role in the production and amplification of the antiviral type I and III interferon response. Autosomal recessive IRF7-deficiency resulted in life-threatening influenza disease in a 3-year-old child. We studied the impact of IRF7-deficiency in non-hematopoietic tissues (fibroblasts and lung epithelial cells) as well in hematopoietic cells (peripheral blood mononuclear cells (PBMCs)). Genome-wide gene expression analysis demonstrated a profound loss of type I and III IFNs in PBMCs infected with influenza virus.

Experimental Design

PBMCs were isolated from 4 healthy donors and patients with deficiencies for IRF7 and UNC93B. The cells were infected with influenza virus A/CA/4/2009 at a multiplicity of infection (MOI) of 2 for 8 and 16 hours. Uninfected cells were cultured for 16 hours.

Platform Illumina HumanHT-12 v4
No information available.
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