Deconvolution of bulk RNA sequencing in activated phosphoinositide 3-kinase δ syndrome.

ABSTRACT:

Background

Many gaps remain in our understanding of the immune and molecular characteristics that underlie activated phosphoinositide 3-kinase delta syndrome (APDS).

Methods

We performed RNA sequencing of peripheral blood leukocytes obtained from a child with APDS and his healthy parents and deconvoluted bulk transcriptional data to assess immune cell status.

Results

Pathway enrichment analysis suggested signaling pathways enriched in virus infection as well as the PI3K, mitogen-activated protein kinase (MAPK), natural killer cell-mediated cytotoxicity, and nucleotide-binding oligomerization domain (NOD)-like receptor signaling pathways. The proportion of B cells memory, T cells CD4 memory resting and dendritic cells activated were reduced, whereas B cells naïve, T ce

SUBMITTER: Huang X 

PROVIDER: S-EPMC10632076 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature