Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

被引：39

作者：

Cardenes, Maria

von Bernuth, Horst

Garcia-Saavedra, Ayoze

Santiago, Esther

Puel, Anne

Ku, Cheng-Lung

Emile, Jean-Francois

Picard, Capucine

Casanova, Jean-Laurent

Colino, Elena

Bordes, Ana

Garfia, Antonio

Rodriguez-Gallego, Carlos

机构：

[1] Gran Canaria Dr Negrin Univ Hosp, Dept Immunol, Canarian Inst Canc Res, Tenerife, Spain

[2] Gran Canaria Dr Negrin Univ Hosp, Dept Microbiol, Canarian Inst Canc Res, Tenerife, Spain

[3] Matemoinfantil Hosp, Dept Pediat, Las Palmas Gran Canaria, Spain

[4] Natl Inst Toxicol, Seville, Spain

[5] Univ Paris, INSERM, U550,Necker Hosp, Lab Human Genet Infect Dis,Necker Med Sch Pediat, Paris, France

[6] Hop Ray Poincare, Dept Pathol, Garches, France

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 04期

关键词：

D O I：

10.1016/j.jpeds.2005.12.012

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should he considered in families with invasive bacterial disease. even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.

引用

收藏

页码：549 / 551

页数：3

相关论文

共 10 条

[1] Toll-like receptor signalling [J].

Akira, S ;

Takeda, K .

NATURE REVIEWS IMMUNOLOGY, 2004, 4 (07) :499-511

[2] Inferences, questions and possibilities in toll-like receptor signalling [J].

Beutler, B .

NATURE, 2004, 430 (6996) :257-263

[3] Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency:: First association with a primary immune deficiency [J].

Chapel, H ;

Puel, A ;

von Bernuth, H ;

Picard, C ;

Casanova, JL .

CLINICAL INFECTIOUS DISEASES, 2005, 40 (09) :1227-1231

[4] Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses [J].

Day, N ;

Tangsinmankong, N ;

Ochs, H ;

Rucker, R ;

Picard, C ;

Casanova, JL ;

Haraguchi, S ;

Good, R .

JOURNAL OF PEDIATRICS, 2004, 144 (04) :524-526

[5] Two siblings with lethal pneumococcal meningitis in a family with a mutation in interleukin-1 receptor-associated kinase 4 [J].

Enders, A ;

Pannicke, U ;

Berner, R ;

Henneke, P ;

Radlinger, K ;

Schwarz, K ;

Ehl, S .

JOURNAL OF PEDIATRICS, 2004, 145 (05) :698-700

[6] Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections [J].

Medvedev, AE ;

Lentschat, A ;

Kuhns, DB ;

Blanco, JCG ;

Salkowski, C ;

Zhang, SL ;

Arditi, MH ;

Gallin, JI ;

Vogel, SN .

JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 198 (04) :521-531

[7] Pyogenic bacterial infections in humans with IRAK-4 deficiency [J].

Picard, C ;

Puel, A ;

Bonnet, M ;

Ku, CL ;

Bustamante, J ;

Yang, K ;

Soudais, C ;

Dupuis, S ;

Feinberg, J ;

Fieschi, C ;

Elbim, C ;

Hitchcock, R ;

Lammas, D ;

Davies, G ;

Al-Ghonaium, A ;

Al-Rayes, H ;

Al-Jumaah, S ;

Al-Hajjar, S ;

Al-Mohsen, IZ ;

Frayha, HH ;

Rucker, R ;

Hawn, TR ;

Aderem, A ;

Tufenkeji, H ;

Haraguchi, S ;

Day, NK ;

Good, RA ;

Gougerot-Pocidalo, MA ;

Ozinsky, A ;

Casanova, JL .

SCIENCE, 2003, 299 (5615) :2076-2079

[8]

Picard C, 2003, CURR OPIN ALLERGY CL, V3, P451, DOI [10.1097/00130832-200312000-00006, 10.1097/01.all.0000104457.09202.c0]

[9] Inherited disorders of NF-κB-mediated immunity in man [J].

Puel, A ;

Picard, C ;

Ku, CL ;

Smahi, A ;

Casanova, JL .

CURRENT OPINION IN IMMUNOLOGY, 2004, 16 (01) :34-41

[10] IRAK4 kinase activity is redundant for interleukin-1 (IL-1) receptor-associated kinase phosphorylation and IL-1 responsiveness [J].

Qin, JZ ;

Jiang, ZF ;

Qian, YC ;

Casanova, JL ;

Li, XX .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (25) :26748-26753