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Article

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.

Cold Spring Harbor molecular case studies - 1 Jun 2020

Jia Alicia, James Elliot, Lu Henry Y, Sharma Mehul, Modi Bhavi P, Biggs Catherine M, Hildebrand Kyla J, Chomyn Alanna, Erdle Stephanie, Kular Hasandeep, Turvey Stuart E

Abstract excerpt

The innate immune system allows for rapid recognition of pathogens. Toll-like receptor (TLR) signaling is a key aspect of the innate immune response, and interleukin-1 receptor-associated kinase 4 (IRAK4) plays a vital role in the TLR signaling cascade. Each TLR recognizes a distinct set of pathogen-associated molecular patterns (PAMPs) that encompass conserved microbial components such as lipopolysaccharides and...

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PMID: 32532880
DOI: 10.1101/mcs.a005298
PMCID: PMC7304365

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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