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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

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

http://hdl.handle.net/20.500.12000/47685
http://hdl.handle.net/20.500.12000/47685
3cad9160-fba1-4396-a6a4-fa9ee63f0c8e
名前 / ファイル ライセンス アクション
medi-95-e2437.pdf medi-95-e2437.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2021-01-29
タイトル
タイトル Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency : Case Report
言語 en
作成者 Takada, Hidetoshi

× Takada, Hidetoshi

en Takada, Hidetoshi

Ishimura, Masataka

× Ishimura, Masataka

en Ishimura, Masataka

Takimoto, Tomohito

× Takimoto, Tomohito

en Takimoto, Tomohito

Kohagura, Toaki

× Kohagura, Toaki

en Kohagura, Toaki

Yoshikawa, Hideto

× Yoshikawa, Hideto

en Yoshikawa, Hideto

Imaizumi, Masue

× Imaizumi, Masue

en Imaizumi, Masue

Shichijyou, Koichi

× Shichijyou, Koichi

en Shichijyou, Koichi

Shimabukuro, Yoko

× Shimabukuro, Yoko

en Shimabukuro, Yoko

Kise, Tomoo

× Kise, Tomoo

en Kise, Tomoo

Hyakuna, Nobuyuki

× Hyakuna, Nobuyuki

en Hyakuna, Nobuyuki

Ohara, Osamu

× Ohara, Osamu

en Ohara, Osamu

Nonoyama, Shigeaki

× Nonoyama, Shigeaki

en Nonoyama, Shigeaki

Hara, Toshiro

× Hara, Toshiro

en Hara, Toshiro

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
言語 en
権利情報Resource http://creativecommons.org/licenses/by/4.0/
権利情報 http://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 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 separation occurred on the 14th day after birth or thereafter. Two patients had no severe infections owing to the prophylactic antibiotic treatment. Severe invasive bacterial infections occurred before the age of 3 in the other 8 patients. Among them, 7 patients had pneumococcal meningitis. Five patients died of invasive bacterial infection during infancy, although intravenous antibiotic treatment was started within 24 hours after onset in 4 patients among them. Analysis of cerebrospinal fluid of the patients who had fatal meningitis revealed very low glucose levels with only mild pleocytosis. The clinical courses of invasive bacterial infections were often rapidly progressive despite the early, appropriate antibiotic treatment in IRAK4 deficiency patients. The early diagnosis and appropriate
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Wolters Kluwer Health
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/47685
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1097/MD.0000000000002437
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1097/MD.0000000000002437
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 0025-7974
収録物識別子タイプ ISSN
収録物識別子 1536-5964
収録物名
言語 en
収録物名 Medicine
書誌情報
巻 95, 号 4
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