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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 5/2019

01-07-2019 | Colchicine | Letter to Editor

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

Authors: Pei Dai, Tim Furlong, Gary Gracie, Min Li Huang, Tao Yang, Kathy H. C. Wu, Mark Danta, Melanie Wong, Andrew Williams, Lyn March, Marie Hetherington, David Heyworth-Smith, Tri Giang Phan

Published in: Journal of Clinical Immunology | Issue 5/2019

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Excerpt

To the Editor, …
Literature
1.
Holzinger D, Fassl SK, de Jager W, Lohse P, Rohrig UF, Gattorno M, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol. 2015;136(5):1337–45.CrossRefPubMedPubMedCentral
2.
Ometto F, Friso L, Astorri D, Botsios C, Raffeiner B, Punzi L, et al. Calprotectin in rheumatic diseases. Exp Biol Med (Maywood). 2017;242(8):859–73.CrossRef
3.
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017;18(8):832–42.CrossRefPubMed
4.
Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100(23):13501–6.CrossRefPubMedPubMedCentral
5.
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002;11(8):961–9.CrossRefPubMed
6.
Hessian PA, Edgeworth J, Hogg N. MRP-8 and MRP-14, two abundant Ca(2+)-binding proteins of neutrophils and monocytes. J Leukoc Biol. 1993;53(2):197–204.CrossRefPubMed
7.
Urban CF, Ermert D, Schmid M, Abu-Abed U, Goosmann C, Nacken W, et al. Neutrophil extracellular traps contain calprotectin, a cytosolic protein complex involved in host defense against Candida albicans. PLoS Pathog. 2009;5(10):e1000639.CrossRefPubMedPubMedCentral
8.
Metadata
Title
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation
Authors
Pei Dai
Tim Furlong
Gary Gracie
Min Li Huang
Tao Yang
Kathy H. C. Wu
Mark Danta
Melanie Wong
Andrew Williams
Lyn March
Marie Hetherington
David Heyworth-Smith
Tri Giang Phan
Publication date
01-07-2019
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00646-z

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