Elma El Khouri

The diagnosis of HA20 is highly challenging due to its heterogeneous clinical presentation and the lack of pathognomonic symptoms. The non-ambiguous pathogenic significance of TNFAIP3 variations is necessary for the confirmation of HA20 diagnosis and adaptation of the clinical care. While in the case of TNFAIP3 nonsense or frameshift variations the deleterious impact is most often established, the pathogenic effect of missense variations is difficult to determine.

This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/art.42354. Abstract Objective To identify the molecular basis of a severe systemic autoinflammatory disorder (SAID) and define its main phenotypical features.