Monogenic autoinflammatory and autoimmune diseases

Carried by: FAI²R, Network for Rare Autoimmune and Autoinflammatory Diseases

References:

Clinician(s): Alexandre BELOT, Sophie GEORGIN-LAVIALLE

Biologist(s): Guilaine BOURSIER, Laurence CUISSET, Maud TUSSEAU

Presentation

For patients presenting signs of monogenic autoimmune or autoinflammatory disease, discussed during national FAI²R multidisciplinary team meetings (or those of the CEREMAIA or RAISE regional centers for rare diseases), and for whom the proposed genetic analyses are inconclusive, whole genome sequencing (WGS) with trio analysis may be offered.

These cases are reviewed during a pre-genomic multidisciplinary team meeting (upstream multidisciplinary team meeting), which will enable the selection of patients to be included for genomic study on national very high-throughput sequencing platforms.

In cases of syndromic involvement, WGS is now offered as a first-line strategy.

One of the benefits of this sequencing is therapeutic targeting based on the genetic abnormality.

Criteria before considering a discussion in MDM-FMG

A diagnostic NGS panel is not mandatory prior to WGS, but if one has been performed, the decision has been made to wait for the results before initiating WGS.
If other genetic analyses are performed at the research level, WGS analysis is possible even without results available. However, the research team will be notified and feedback on any results will be requested from this team.
A complete clinical phenotyping (of the family) and broad immune phenotyping contribute to a better analysis of variants.
The addition of a family tree including variants already found in different family members is requested in the RCP form.