Deficiency of Interleukin-1 Receptor-associated Kinase 4 Presenting as Fatal Pseudomonas aeruginosa Bacteremia in Two Siblings

被引：9

作者：

Stergiopoulou, Theodouli ^{[1
]}

Walsh, Thomas J. ^{[3
,4
,5
,6
]}

Seghaye, Marie-Christine ^{[1
]}

Netea, Mihai G. ^{[7
]}

Casanova, Jean-Laurent ^{[8
,9
,10
]}

Moutschen, Michel ^{[2
]}

Picard, Capucine ^{[9
,11
]}

机构：

[1] Univ Liege, CHU Liege, Dept Pediat, Liege, Belgium

[2] Univ Liege, CHU Liege, Dept Infect Dis & Gen Internal Med, Liege, Belgium

[3] Weill Cornell Med Ctr, Transplantat Oncol Infect Dis Program, New York, NY USA

[4] Weill Cornell Med Ctr, Dept Med, New York, NY USA

[5] Weill Cornell Med Ctr, Dept Pediat, New York, NY USA

[6] Weill Cornell Med Ctr, Dept Microbiol & Immunol, New York, NY USA

[7] Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[8] Rockefeller Univ Hosp, New York, NY 10021 USA

[9] Paris Descartes Univ, Lab Human Genet Infect Dis, Necker Med Sch, Necker Branch,INSERM,U1163,Imagine Inst, Paris, France

[10] Howard Hughes Med Inst, New York, NY USA

[11] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France

来源：

PEDIATRIC INFECTIOUS DISEASE JOURNAL | 2015年 / 34卷 / 03期

基金：

美国国家卫生研究院;

关键词：

interleukin-1 receptor-associated kinase 4; Pseudomonas sepsis; primary immunodeficiency; ecthyma gangrenosum; delayed umbilical cord separation; IRAK-4; DEFICIENCY; CHILDREN;

D O I：

10.1097/INF.0000000000000550

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency of innate immunity. This is the case of a previous healthy toddler and his sibling, who both died of fulminant sepsis due to Pseudomonas aeruginosa. Subsequent genetic analysis demonstrated IRAK-4 deficiency with compound heterozygous splice mutations. Fulminant fatal P. aeruginosa sepsis may be the first manifestation of IRAK-4 deficiency.

引用

页码：299 / 300

页数：2

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