Even in Pneumococcal Sepsis CD62L Shedding on Granulocytes Proves to be a Reliable Functional Test for the Diagnosis of Interleukin-1 Receptor-associated Kinase-4 Deficiency

被引：3

作者：

Andres, Oliver ^{[1
,2
]}

Strehl, Karoline ^{[3
]}

Koelsch, Uwe ^{[4
,5
]}

Kunzmann, Steffen ^{[1
,2
]}

Lebrun, Anne-Helene ^{[3
]}

Stroh, Thorsten ^{[6
]}

Schwarz, Klaus ^{[7
,8
]}

Morbach, Henner ^{[1
,2
]}

von Bernuth, Horst ^{[3
,4
]}

Liefse, Johannes ^{[1
,2
]}

机构：

[1] Univ Wurzburg, Div Pediat Infect Dis & Immunol, D-97070 Wurzburg, Germany

[2] Univ Wurzburg, Div Neonatol & Pediat Intens Care, Dept Pediat, D-97070 Wurzburg, Germany

[3] Charite Childrens Hosp, Dept Pediat Pneumol & Immunol, Berlin, Germany

[4] Lab Berlin, Div Immunol, Berlin, Germany

[5] Campus Virchow Klinikum, Charite, Inst Med Immunol, Berlin, Germany

[6] Charite, Med Dept 1, D-13353 Berlin, Germany

[7] German Red Cross Blood Serv, Inst Clin Transfus Med & Immunogenet, Baden Wurttemberg Hessen, Germany

[8] Univ Hosp Ulm, Inst Transfus Med, Ulm, Germany

来源：

PEDIATRIC INFECTIOUS DISEASE JOURNAL | 2013年 / 32卷 / 09期

关键词：

invasive pneumococcal disease; invasive bacterial disease; interleukin-1 receptor-associated kinase-4 deficiency; primary immunodeficiency; CD62L shedding; flow cytometry; PYOGENIC BACTERIAL-INFECTIONS; MYD88; DEFICIENCY; IRAK-4; HUMANS;

D O I：

10.1097/INF.0b013e318292bf8c

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

A 9-month-old infant presented with fatal pneumococcal sepsis and attenuated inflammation indices. Even in septic conditions, flow cytometry-based CD62L shedding test on granulocytes proved to be a fast and reliable diagnostic tool for the detection of a defect in the innate immunity. Confirmatory immunologic and genetic assays identified an autosomal-recessive interleukin-1 receptor-associated kinase-4 deficiency due to compound heterozygous mutations.

引用

页码：1017 / 1019

页数：3

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