Article

Two Novel Compound heterozygous Loss-of-Function Mutations Cause Fetal IRAK-4 Deficiency presenting with Pseudomonas aeruginosa Sepsis

2023-07-31

Abstract excerpt

<title>Abstract</title> <p>Purpose To report a case of a five-month-old Chinese infant who died of IRAK-4 deficiency presenting with rapid and progressive <italic>Pseudomonas aeruginosa</italic> sepsis. Methods The genetic etiology of IRAK-4 deficiency was confirmed through Trio- whole-exome sequencing (Trio-WES) and Sanger sequencing. The detected novel mutations were further investigated by in vitro minigene...

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Literature Corpus work: d95cc3ed-2dd9-57d7-b186-f23b6eb5194b
DOI: 10.21203/rs.3.rs-3179560/v1

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Two Novel Compound heterozygous Loss-of-Function Mutations Cause Fetal IRAK-4 Deficiency presenting with Pseudomonas aeruginosa SepsisDOI 10.21203/rs.3.rs-3179560/v1Read

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