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

María Cardenes; Horst von Bernuth; Ayoze García-Saavedra; Esther Santiago; Anne Puel; Cheng Lung Ku; Jean François Emile; Capucine Picard; Jean Laurent Casanova; Elena Colino; Ana Bordes; Antonio Garfia; Carlos Rodríguez-Gallego

doi:10.1016/j.jpeds.2005.12.012

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

María Cardenes, Horst von Bernuth, Ayoze García-Saavedra, Esther Santiago, Anne Puel, Cheng Lung Ku, Jean François Emile, Capucine Picard, Jean Laurent Casanova, Elena Colino, Ana Bordes, Antonio Garfia, Carlos Rodríguez-Gallego^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

47 Scopus citations

Abstract

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 be 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.

Original language	English
Pages (from-to)	549-551
Number of pages	3
Journal	Journal of Pediatrics
Volume	148
Issue number	4
DOIs	https://doi.org/10.1016/j.jpeds.2005.12.012
State	Published - 04 2006
Externally published	Yes

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Cardenes, M., von Bernuth, H., García-Saavedra, A., Santiago, E., Puel, A., Ku, C. L., Emile, J. F., Picard, C., Casanova, J. L., Colino, E., Bordes, A., Garfia, A., & Rodríguez-Gallego, C. (2006). Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives. Journal of Pediatrics, 148(4), 549-551. https://doi.org/10.1016/j.jpeds.2005.12.012

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title = "Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives",

abstract = "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 be 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.",

author = "Mar{\'i}a Cardenes and \{von Bernuth\}, Horst and Ayoze Garc{\'i}a-Saavedra and Esther Santiago and Anne Puel and Ku, \{Cheng Lung\} and Emile, \{Jean Fran{\c c}ois\} and Capucine Picard and Casanova, \{Jean Laurent\} and Elena Colino and Ana Bordes and Antonio Garfia and Carlos Rodr{\'i}guez-Gallego",

year = "2006",

month = apr,

doi = "10.1016/j.jpeds.2005.12.012",

language = "英语",

volume = "148",

pages = "549--551",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

number = "4",

}

Cardenes, M, von Bernuth, H, García-Saavedra, A, Santiago, E, Puel, A, Ku, CL, Emile, JF, Picard, C, Casanova, JL, Colino, E, Bordes, A, Garfia, A & Rodríguez-Gallego, C 2006, 'Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives', Journal of Pediatrics, vol. 148, no. 4, pp. 549-551. https://doi.org/10.1016/j.jpeds.2005.12.012

TY - JOUR

T1 - Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

AU - Cardenes, María

AU - von Bernuth, Horst

AU - García-Saavedra, Ayoze

AU - Santiago, Esther

AU - Puel, Anne

AU - Ku, Cheng Lung

AU - Emile, Jean François

AU - Picard, Capucine

AU - Casanova, Jean Laurent

AU - Colino, Elena

AU - Bordes, Ana

AU - Garfia, Antonio

AU - Rodríguez-Gallego, Carlos

PY - 2006/4

Y1 - 2006/4

N2 - 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 be 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.

AB - 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 be 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.

UR - https://www.scopus.com/pages/publications/33646505294

U2 - 10.1016/j.jpeds.2005.12.012

DO - 10.1016/j.jpeds.2005.12.012

M3 - 文章

C2 - 16647422

AN - SCOPUS:33646505294

SN - 0022-3476

VL - 148

SP - 549

EP - 551

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 4

ER -

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

Abstract

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