Genetics Working Party

Genetics WP - Newsletter March 2014

Home/ Working Parties/ Genetics Working Party/ News & Events/ Genetics WP - Newsletter March 2014


Primary immunodeficiencies (PIDs) are inborn errors of the immune system. The advent of next-generation sequencing (NGS) in 2011 has facilitated the identification of novel genetic lesions and is rapidly generating a stream of candidate variations for an increasing number of genetically undefined PIDs. The use of NGS technology is ushering in a new era by facilitating the diagnostic accuracy. Several NGS methods have been developed in order to increase coverage and decreased the error rate in the genetic diagnosis of known genetic disorders. These methods include resequencing chip hybridization or targeted sequencing and have been successfully used in the PIDs’ diagnosis, but generate huge quantity of genetic variants (1). Access to variant databases (i.e. mutation and polymorphism databases) is strongly recommended for the interpretation of NGS results. International databases should be developed for submitting identified and validated variants and thus helping diagnostic laboratories to interpret NGS results. 

In the technological advances’ context in genomics, we organized the second workshop about NGS in the PIDs’ diagnosis, March 21th 2014. Twenty participants attended to this workshop coming from Austria, Belgium, France, Finland, Germany, Italy, the Netherlands, Norway and UK. We discussed and decided to work on the following points: (i) Efficiently implement and exchange experiences of genetic laboratories, (ii) Exchange mutation data, genotypes and phenotypes (for the interpretation of ‘new’ variants) with the help of ESID register (Pr S. Ehl) and IDbases (Pr Vihinen) and (iii) Develop European wide consensus guidelines for PID NGS. If you want participate to this effort, could you also tell us which technology you are using or you plan to use for NGS in the PIDs diagnostic, (please contact [email protected]) ? And please, joint us at the next ESID congress in Prague (Parallel Workshop XI, Presentation title: Technologies – Next generation sequencing, Date: Friday, October 31, 2014- Room: Hall E, Time: 08:00-08:45).

Our best,

Capucine PICARD
for the Genetics WP of ESID

1- Nijman IJ, et al. Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014 ;133(2):529-534.e1.