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Article Dans Une Revue Journal of Investigative Dermatology Année : 2021

Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases

Résumé

Pathogenic variants in the PSTPIP1 gene cause pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They were also identified in a broad spectrum of phenotypes. As their interpretation is sometimes challenging, we discuss the genotype-phenotype association in PSTPIP1-associated autoinflammatory diseases (PAIDs) in light of a recent consensus classification of variant pathogenicity. Only 7 of 39 (18%) of the PSTPIP1 variants found in all reported cases and our national reference center (161 patients [114 probands]) were pathogenic. They were clearly associated with PAPA and PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome (PAMI), reflecting a variable clinical expression of PAIDs.

Domaines

Dermatologie
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Dates et versions

hal-03228762 , version 1 (24-04-2023)

Licence

Paternité - Pas d'utilisation commerciale

Identifiants

Citer

Guilaine Boursier, Maryam Piram, Cécile Rittore, Guillaume Sarrabay, Isabelle Touitou. Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. Journal of Investigative Dermatology, 2021, 141 (5), pp.1141-1147. ⟨10.1016/j.jid.2020.08.028⟩. ⟨hal-03228762⟩
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