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Case Reports
. 2015 Aug;136(2):484-7.e2.
doi: 10.1016/j.jaci.2014.12.1941. Epub 2015 Feb 25.

Somatic NOD2 mosaicism in Blau syndrome

Jaime de Inocencio  1 , Anna Mensa-Vilaro  2 , Pilar Tejada-Palacios  3 , Eugenia Enriquez-Merayo  1 , Eva González-Roca  2 , Giuliana Magri  4 , Estibaliz Ruiz-Ortiz  2 , Andrea Cerutti  4 , Jordi Yagüe  2 , Juan I Aróstegui  5
Affiliations
Case Reports

Somatic NOD2 mosaicism in Blau syndrome

Jaime de Inocencio et al. J Allergy Clin Immunol. 2015 Aug.
No abstract available

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Conflict of interest statement

Disclosure of potential conflict of interest: E. Enriquez-Merayo has received payment for delivering lectures from Roche and AbbVie. J. I. Aróstegui’s institution has received or has grants pending from Novartis, from which he has also received payment for delivering lectures. The rest of the authors declare that they have no relevant conflicts of interest.

Figures

FIG 1
FIG 1
A, Family’s pedigree. B, Genomic organization of the NOD2 gene (top) and scheme of the pair of primers designed to analyze the exon 4 (below) (green arrows represent the pair primers used for PCR amplification and Sanger sequencing, while white and red arrows represent those primers designed for targeted deep sequencing surrounding the c.1001 NOD2 nucleotide position). C, Sanger sense and antisense NOD2 chromatograms from a healthy control (left boxes), from a patient with BS carrying the germline p.Arg334Gln NOD2 mutation (middle boxes), and from the patient described here (right boxes). Gray arrows show the c.1001 position. D, Sanger sense and antisense chromatograms from the patient described here showing the heterozygous c.802C>T transition (gray arrows) in the PCR amplicon used for Sanger sequencing.
See this image and copyright information in PMC

References

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Substances

Supplementary concepts