Pyogenic bacterial infections in humans with MyD88 deficiency

Horst Von Bernuth; Capucine Picard; Zhongbo Jin; Rungnapa Pankla; Hui Xiao; Cheng Lung Ku; Maya Chrabieh; Imen Ben Mustapha; Pegah Ghandil; Yildiz Camcioglu; Júlia Vasconcelos; Nicolas Sirvent; Margarida Guedes; Artur Bonito Vitor; María José Herrero-Mata; Juan Ignacio Aróstegui; Carlos Rodrigo; Laia Alsina; Estibaliz Ruiz-Ortiz; Manel Juan; Claudia Fortuny; Jordi Yagüe; Jordi Antón; Mariona Pascal; Huey Hsuan Chang; Lucile Janniere; Yoann Rose; Ben Zion Garty; Helen Chapel; Andrew Issekutz; László Maródi; Carlos Rodriguez-Gallego; Jacques Banchereau; Laurent Abel; Xiaoxia Li; Damien Chaussabel; Anne Puel; Jean Laurent Casanova

doi:10.1126/science.1158298

Pyogenic bacterial infections in humans with MyD88 deficiency

Horst Von Bernuth, Capucine Picard, Zhongbo Jin, Rungnapa Pankla, Hui Xiao, Cheng Lung Ku, Maya Chrabieh, Imen Ben Mustapha, Pegah Ghandil, Yildiz Camcioglu, Júlia Vasconcelos, Nicolas Sirvent, Margarida Guedes, Artur Bonito Vitor, María José Herrero-Mata, Juan Ignacio Aróstegui, Carlos Rodrigo, Laia Alsina, Estibaliz Ruiz-Ortiz, Manel JuanClaudia Fortuny, Jordi Yagüe, Jordi Antón, Mariona Pascal, Huey Hsuan Chang, Lucile Janniere, Yoann Rose, Ben Zion Garty, Helen Chapel, Andrew Issekutz, László Maródi, Carlos Rodriguez-Gallego, Jacques Banchereau, Laurent Abel, Xiaoxia Li, Damien Chaussabel, Anne Puel, Jean Laurent Casanova

Medicine

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

686 Citations (Scopus)

Abstract

MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to a broad range of pathogens in experimental settings of infection. We describe a distinct situation in a natural setting of human infection. Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, with normal resistance to other microbes. Their clinical status improved with age, but not due to any cellular leakiness in MyD88 deficiency. The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections.

Original language	English
Pages (from-to)	691-696
Number of pages	6
Journal	Science
Volume	321
Issue number	5889
DOIs	https://doi.org/10.1126/science.1158298
Publication status	Published - Aug 1 2008

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Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

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Von Bernuth, H., Picard, C., Jin, Z., Pankla, R., Xiao, H., Ku, C. L., Chrabieh, M., Mustapha, I. B., Ghandil, P., Camcioglu, Y., Vasconcelos, J., Sirvent, N., Guedes, M., Vitor, A. B., Herrero-Mata, M. J., Aróstegui, J. I., Rodrigo, C., Alsina, L., Ruiz-Ortiz, E., ... Casanova, J. L. (2008). Pyogenic bacterial infections in humans with MyD88 deficiency. Science, 321(5889), 691-696. https://doi.org/10.1126/science.1158298

Von Bernuth, H, Picard, C, Jin, Z, Pankla, R, Xiao, H, Ku, CL, Chrabieh, M, Mustapha, IB, Ghandil, P, Camcioglu, Y, Vasconcelos, J, Sirvent, N, Guedes, M, Vitor, AB, Herrero-Mata, MJ, Aróstegui, JI, Rodrigo, C, Alsina, L, Ruiz-Ortiz, E, Juan, M, Fortuny, C, Yagüe, J, Antón, J, Pascal, M, Chang, HH, Janniere, L, Rose, Y, Garty, BZ, Chapel, H, Issekutz, A, Maródi, L, Rodriguez-Gallego, C, Banchereau, J, Abel, L, Li, X, Chaussabel, D, Puel, A & Casanova, JL 2008, 'Pyogenic bacterial infections in humans with MyD88 deficiency', Science, vol. 321, no. 5889, pp. 691-696. https://doi.org/10.1126/science.1158298

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title = "Pyogenic bacterial infections in humans with MyD88 deficiency",

abstract = "MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to a broad range of pathogens in experimental settings of infection. We describe a distinct situation in a natural setting of human infection. Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, with normal resistance to other microbes. Their clinical status improved with age, but not due to any cellular leakiness in MyD88 deficiency. The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections.",

author = "{Von Bernuth}, Horst and Capucine Picard and Zhongbo Jin and Rungnapa Pankla and Hui Xiao and Ku, {Cheng Lung} and Maya Chrabieh and Mustapha, {Imen Ben} and Pegah Ghandil and Yildiz Camcioglu and J{\'u}lia Vasconcelos and Nicolas Sirvent and Margarida Guedes and Vitor, {Artur Bonito} and Herrero-Mata, {Mar{\'i}a Jos{\'e}} and Ar{\'o}stegui, {Juan Ignacio} and Carlos Rodrigo and Laia Alsina and Estibaliz Ruiz-Ortiz and Manel Juan and Claudia Fortuny and Jordi Yag{\"u}e and Jordi Ant{\'o}n and Mariona Pascal and Chang, {Huey Hsuan} and Lucile Janniere and Yoann Rose and Garty, {Ben Zion} and Helen Chapel and Andrew Issekutz and L{\'a}szl{\'o} Mar{\'o}di and Carlos Rodriguez-Gallego and Jacques Banchereau and Laurent Abel and Xiaoxia Li and Damien Chaussabel and Anne Puel and Casanova, {Jean Laurent}",

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doi = "10.1126/science.1158298",

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AU - Von Bernuth, Horst

AU - Picard, Capucine

AU - Jin, Zhongbo

AU - Pankla, Rungnapa

AU - Xiao, Hui

AU - Ku, Cheng Lung

AU - Chrabieh, Maya

AU - Mustapha, Imen Ben

AU - Ghandil, Pegah

AU - Camcioglu, Yildiz

AU - Vasconcelos, Júlia

AU - Sirvent, Nicolas

AU - Guedes, Margarida

AU - Vitor, Artur Bonito

AU - Herrero-Mata, María José

AU - Aróstegui, Juan Ignacio

AU - Rodrigo, Carlos

AU - Alsina, Laia

AU - Ruiz-Ortiz, Estibaliz

AU - Juan, Manel

AU - Fortuny, Claudia

AU - Yagüe, Jordi

AU - Antón, Jordi

AU - Pascal, Mariona

AU - Chang, Huey Hsuan

AU - Janniere, Lucile

AU - Rose, Yoann

AU - Garty, Ben Zion

AU - Chapel, Helen

AU - Issekutz, Andrew

AU - Maródi, László

AU - Rodriguez-Gallego, Carlos

AU - Banchereau, Jacques

AU - Abel, Laurent

AU - Li, Xiaoxia

AU - Chaussabel, Damien

AU - Puel, Anne

AU - Casanova, Jean Laurent

PY - 2008/8/1

Y1 - 2008/8/1

N2 - MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to a broad range of pathogens in experimental settings of infection. We describe a distinct situation in a natural setting of human infection. Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, with normal resistance to other microbes. Their clinical status improved with age, but not due to any cellular leakiness in MyD88 deficiency. The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections.

AB - MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to a broad range of pathogens in experimental settings of infection. We describe a distinct situation in a natural setting of human infection. Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, with normal resistance to other microbes. Their clinical status improved with age, but not due to any cellular leakiness in MyD88 deficiency. The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections.

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SN - 0036-8075

VL - 321

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JO - Science

JF - Science

IS - 5889

ER -

Pyogenic bacterial infections in humans with MyD88 deficiency

Abstract

ASJC Scopus Subject Areas

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UN SDGs

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