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Article

Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.

Medicine - 1 Jan 2016

Takada Hidetoshi, Ishimura Masataka, Takimoto Tomohito, Kohagura Toaki, Yoshikawa Hideto, Imaizumi Masue, Shichijyou Koichi, Shimabukuro Yoko, Kise Tomoo, Hyakuna Nobuyuki, Ohara Osamu, Nonoyama Shigeaki, Hara Toshiro

Abstract excerpt

Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency (OMIM #607676) is a rare primary immunodeficiency of innate immune defect. We identified 10 patients from 6 families with IRAK4 deficiency in Japan, and analyzed the clinical characteristics of this disease. Nine patients had homozygous c.123_124insA mutation, and 1 patient had c.123_124insA and another nonsense mutation (547C>T). Umbilical cord...

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Source

Open in PubMed Open full text

Identifiers

PMID: 26825884
DOI: 10.1097/MD.0000000000002437
PMCID: PMC5291554

Genes

IRAK4

Variants

Provenance

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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Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency: Case Report.PMID 26825884Read ↗

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