First description of NOD2 variant associated with defective neutrophil responses in a woman with granulomatous mastitis related to corynebacteria.
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.
Bercot
Béatrice
B
AP-HP, Université Paris 7-Denis Diderot, Centre Hospitalier Universitaire Lariboisière-Fernand Widal, Service de Bactériologie-Virologie, Paris 10, France.
Kannengiesser
Caroline
C
Oudin
Claire
C
Grandchamp
Bernard
B
Sanson-le Pors
Marie-José
MJ
Mouly
Stéphane
S
Elbim
Carole
C
D000328:Adult; D001940:Breast / Q000382:microbiology / Q000473:pathology; D003354:Corynebacterium Infections / Q000276:immunology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008413:Mastitis / Q000235:genetics* / Q000276:immunology* / Q000382:microbiology; D008969:Molecular Sequence Data; D009504:Neutrophils / Q000276:immunology*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D011110:Polymorphism, Genetic
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein