Literature DB >> 31119601

Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.

Pei Dai1, Tim Furlong2, Gary Gracie3, Min Li Huang3, Tao Yang3, Kathy H C Wu4,5,6, Mark Danta5, Melanie Wong7, Andrew Williams7, Lyn March8,9, Marie Hetherington10, David Heyworth-Smith10,11, Tri Giang Phan12,13.   

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Year:  2019        PMID： 31119601     DOI： 10.1007/s10875-019-00646-z

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  8 in total

Review 1.  Calprotectin in rheumatic diseases.

Authors:  Francesca Ometto; Lara Friso; Davide Astorri; Costantino Botsios; Bernd Raffeiner; Leonardo Punzi; Andrea Doria
Journal:  Exp Biol Med (Maywood)       Date:  2016-01-01

2.  Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

Authors:  Dirk Holzinger; Selina Kathleen Fassl; Wilco de Jager; Peter Lohse; Ute F Röhrig; Marco Gattorno; Alessia Omenetti; Sabrina Chiesa; Francesca Schena; Judith Austermann; Thomas Vogl; Douglas B Kuhns; Steven M Holland; Carlos Rodríguez-Gallego; Ricardo López-Almaraz; Juan I Arostegui; Elena Colino; Rosa Roldan; Smaragdi Fessatou; Bertrand Isidor; Sylvaine Poignant; Koichi Ito; Hans-Joerg Epple; Jonathan A Bernstein; Michael Jeng; Jennifer Frankovich; Geraldina Lionetti; Joseph A Church; Peck Y Ong; Mona LaPlant; Mario Abinun; Rod Skinner; Venetia Bigley; Ulrich J Sachs; Claas Hinze; Esther Hoppenreijs; Jan Ehrchen; Dirk Foell; Jae Jin Chae; Amanda Ombrello; Ivona Aksentijevich; Cord Sunderkoetter; Johannes Roth
Journal:  J Allergy Clin Immunol       Date:  2015-05-27       Impact factor: 10.793

3.  Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

Authors:  Carol A Wise; Joseph D Gillum; Christine E Seidman; Noralane M Lindor; Rose Veile; Stavros Bashiardes; Michael Lovett
Journal:  Hum Mol Genet       Date:  2002-04-15       Impact factor: 6.150

Review 4.  The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Authors:  Kalpana Manthiram; Qing Zhou; Ivona Aksentijevich; Daniel L Kastner
Journal:  Nat Immunol       Date:  2017-07-19       Impact factor: 25.606

5.  Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.

Authors:  Nitza G Shoham; Michael Centola; Elizabeth Mansfield; Keith M Hull; Geryl Wood; Carol A Wise; Daniel L Kastner
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-31       Impact factor: 11.205

Review 6.  MRP-8 and MRP-14, two abundant Ca(2+)-binding proteins of neutrophils and monocytes.

Authors:  P A Hessian; J Edgeworth; N Hogg
Journal:  J Leukoc Biol       Date:  1993-02       Impact factor: 4.962

Review 7.  Fecal calprotectin in inflammatory bowel disease.

Authors:  Natalie E Walsham; Roy A Sherwood
Journal:  Clin Exp Gastroenterol       Date:  2016-01-28

8.  Neutrophil extracellular traps contain calprotectin, a cytosolic protein complex involved in host defense against Candida albicans.

Authors:  Constantin F Urban; David Ermert; Monika Schmid; Ulrike Abu-Abed; Christian Goosmann; Wolfgang Nacken; Volker Brinkmann; Peter R Jungblut; Arturo Zychlinsky
Journal:  PLoS Pathog       Date:  2009-10-30       Impact factor: 6.823
  8 in total
  3 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

2.  Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Authors:  Dan Zhang; Gaixiu Su; Yan Liu; Jianming Lai
Journal:  Pediatr Rheumatol Online J       Date:  2021-10-07       Impact factor: 3.054

Review 3.  PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Authors:  Bethany Gillies Whiteside; Hannah Titheradge; Eslam Al-Abadi
Journal:  Pediatr Rheumatol Online J       Date:  2022-07-15       Impact factor: 3.413
  3 in total

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