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

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Fig. 1

Abbreviations

PSTPIP1:

Proline-Serine-Threonine Phosphatase Interacting Protein 1

PAMI:

PSTPIP-1-associated myeloid-related proteinemia inflammatory syndrome

MEFV:

Mediterranean Fever

G-CSF:

granulocyte colony stimulating factor

References

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Walsham NE, Sherwood RA. Fecal calprotectin in inflammatory bowel disease. Clin Exp Gastroenterol. 2016;9:21–9.

    CAS  PubMed  PubMed Central  Google Scholar 

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Funding

This work was supported by the John Cook Brown Foundation and the Jeffrey Modell Foundation. TGP is supported by a Fellowship from the NHMRC (1155678).

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Correspondence to Tri Giang Phan.

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Dai, P., Furlong, T., Gracie, G. et al. Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation. J Clin Immunol 39, 519–522 (2019). https://doi.org/10.1007/s10875-019-00646-z

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  • DOI: https://doi.org/10.1007/s10875-019-00646-z

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