2. Academic Validation
  3. Pyogenic bacterial infections in humans with MyD88 deficiency

Pyogenic bacterial infections in humans with MyD88 deficiency

  • Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298.
Horst von Bernuth 1,  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
Affiliations

Affiliation

  • 1 Human Genetics of Infectious Diseases, INSERM U550, Paris, France.
PMID: 18669862 DOI: 10.1126/science.1158298
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.

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