Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
J Invest Dermatol
; 141(5): 1141-1147, 2021 05.
Article
en En
| MEDLINE
| ID: mdl-33218716
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Artritis Infecciosa
/
Piodermia Gangrenosa
/
Acné Vulgar
/
Proteínas del Citoesqueleto
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Proteínas Adaptadoras Transductoras de Señales
/
Enfermedades Autoinflamatorias Hereditarias
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
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Humans
/
Male
Idioma:
En
Revista:
J Invest Dermatol
Año:
2021
Tipo del documento:
Article