Article

IRAK2 deficiency causes a new immune dysregulation disorder

2024-10-22

Abstract excerpt

Interleukin 1 receptor-associated kinase 2 (IRAK2) plays a critical role in immune response by participating in the formation of the Myddosome complex in Toll-like receptor (TLR) signaling pathways. Here, we identified a loss-of-function mutation ( IRAK2-Δex2 ) in the IRAK2 gene in three patients, presenting with immune dysregulation, including systemic lupus erythematosus (SLE) and autoinflammatory disease. This...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a6b50a42-383c-5376-8ec2-c9bf8d2629db
DOI: 10.1101/2024.10.21.24315796

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

IRAK2 deficiency causes a new immune dysregulation disorderDOI 10.1101/2024.10.21.24315796Read

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.Semantic proximity Read

Interleukin-1 receptor-associated kinase-2 genetic variant rs708035 increases NF-κB activity through promoting TRAF6 ubiquitination.Semantic proximity Read

IRAK family in inflammatory autoimmune diseasesSemantic proximity Read

A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival.Semantic proximity Read

The Murine Irak2 Gene Encodes Four Alternatively Spliced Isoforms, Two of Which Are InhibitorySemantic proximity Read

Human Interleukin-1 Receptor-associated Kinase-2 Is Essential for Toll-like Receptor-mediated Transcriptional and Post-transcriptional Regulation of Tumor Necrosis Factor αSemantic proximity Read

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.Semantic proximity Read

A de novo IKZF4 variant impairs marginal zone B cells and regulatory T cells by downregulating the NF-κB pathwaySemantic proximity Read

A frequent hypofunctional IRAK2 variant is associated with reduced spontaneous hepatitis C virus clearance.Semantic proximity Read

Mechanism of dysfunction of human variants of the IRAK4 kinase and a role for its kinase activity in interleukin-1 receptor signaling.Semantic proximity Read

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced InflammationSemantic proximity Read

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read