First description of NOD2 variant associated with defective neutrophil responses in a woman with granulomatous mastitis related to corynebacteria

Béatrice Bercot; Caroline Kannengiesser; Claire Oudin; Bernard Grandchamp; Marie-José Sanson-le Pors; Stéphane Mouly; Carole Elbim

doi:10.1128/JCM.00561-09

First description of NOD2 variant associated with defective neutrophil responses in a woman with granulomatous mastitis related to corynebacteria

J Clin Microbiol. 2009 Sep;47(9):3034-7. doi: 10.1128/JCM.00561-09. Epub 2009 Jul 29.

Authors

Béatrice Bercot¹, Caroline Kannengiesser, Claire Oudin, Bernard Grandchamp, Marie-José Sanson-le Pors, Stéphane Mouly, Carole Elbim

Affiliation

¹ AP-HP, Université Paris 7-Denis Diderot, Centre Hospitalier Universitaire Lariboisière-Fernand Widal, Service de Bactériologie-Virologie, Paris 10, France.

Abstract

We report the first case of granulomatous mastitis due to Corynebacterium kroppenstedtii linked to strongly impaired neutrophil responses to Nod2 agonist and a single nucleotide polymorphism within the NOD2 gene (SNP13 [Leu1007fsinsC]) in a heterozygous state. These findings provided the first demonstration of impaired Nod2 function associated with corynebacterial infection.

Publication types

Case Reports

MeSH terms

Adult
Breast / microbiology
Breast / pathology
Corynebacterium Infections / immunology*
Female
Heterozygote
Humans
Mastitis / genetics*
Mastitis / immunology*
Mastitis / microbiology
Molecular Sequence Data
Neutrophils / immunology*
Nod2 Signaling Adaptor Protein / genetics*
Polymorphism, Genetic*

Substances

NOD2 protein, human
Nod2 Signaling Adaptor Protein

Associated data

GENBANK/GQ244303