Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin
 Diseases. After collecting informed consent, all patients' clinical phenotype is graded at
 inclusion with a detailed case report form and a discovery cohort formed based on the
 certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole
 exome sequencing which identifies all protein-coding genetic variants. Subsequently,
 statistical burden tests are going to identify enrichment of rare coding genetic variants in
 patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.

 The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical
 intervention.
Timeframe:

 -  Collection of DNA for discovery cohort until 05/2016

 -  Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID

 -  Report and data presentation early 2015 for PG, 2017 for other NMID
Inclusion criteria:

 -  History of NMID or active disease.

 -  Informed consent.

 Exclusion criteria:

 - No consent to either part of the study.