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

The Journal of Investigative Dermatology
Guilaine BoursierI Touitou

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.

References

Oct 3, 2000·Arthritis and Rheumatism·C A WiseA M Bowcock
Nov 17, 2001·The Journal of Biological Chemistry·Jean-Francois CôtéMichel L Tremblay
Nov 5, 2003·Proceedings of the National Academy of Sciences of the United States of America·Nitza G ShohamDaniel L Kastner
Apr 23, 2004·The Journal of Investigative Dermatology·Bill NewmanKatherine A Siminovitch
Apr 15, 2008·Human Mutation·Florian MilhavetIsabelle Touitou
Mar 18, 2009·Immunological Reviews·André VeilletteDominique Davidson
Jul 9, 2009·PloS One·Andrea L WaiteDeborah L Gumucio
Feb 18, 2011·Annals of the Rheumatic Diseases·Meike A SchellevisJos W M van der Meer
May 3, 2011·Current Genomics·Elisabeth J SmithCarol A Wise
Jul 13, 2011·Journal of the American Academy of Dermatology·Markus Braun-FalcoThomas Ruzicka
Jul 28, 2011·Clinical and Experimental Dermatology·A B NesterovitchT T Glant
Jan 21, 2015·The British Journal of Dermatology·S DuchateletA Hovnanian
Feb 17, 2015·Clinical and Experimental Dermatology·T ZeeliE Sprecher
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Dec 30, 2015·The British Journal of Dermatology·X Calderón-CastratJ Cañueto
Oct 30, 2016·The British Journal of Dermatology·A V MarzanoM Cugno
May 18, 2016·European Journal of Medical Genetics·Bhattaram Siddhartha KumarPotukuchi Venkata Gurunadha Krishna Sarma
Feb 27, 2017·American Journal of Clinical Dermatology·Massimo CugnoAngelo V Marzano
Mar 28, 2017·International Journal of Dermatology·Caroline Vinkel, Simon F Thomsen
Sep 30, 2017·Pediatric Blood & Cancer·Masatoshi TakagiTomohiro Morio
Feb 13, 2018·The Journal of Allergy and Clinical Immunology·Willemijn J M JanssenMarianne Boes
Mar 27, 2018·The Journal of Dermatology·Nao SaitoAkemi Ishida-Yamamoto
Aug 14, 2018·Annals of the Rheumatic Diseases·Eldad Ben-ChetritUNKNOWN Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants

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