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

J Clin Immunol. 2019 Jul;39(5):519-522. doi: 10.1007/s10875-019-00646-z. Epub 2019 May 22.

Pei Dai¹, Tim Furlong², Gary Gracie³, Min Li Huang³, Tao Yang³, Kathy H C Wu^{4

5

6}, Mark Danta⁵, Melanie Wong⁷, Andrew Williams⁷, Lyn March^{8

9}, Marie Hetherington¹⁰, David Heyworth-Smith^{10

11}, Tri Giang Phan^{12

13}

¹ Department of Immunology, St Vincent's Hospital, Sydney, Australia.
² Department of Renal Medicine, St Vincent's Hospital, Sydney, Australia.
³ Department of Anatomical Pathology, St Vincent's Hospital, Sydney, Australia.
⁴ Clinical Genetics Unit, St Vincent's Hospital, Sydney, Australia.
⁵ St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia.
⁶ Discipline of Genetic Medicine, University of Sydney, Sydney, Australia.
⁷ Children's Hospital at Westmead, Sydney, Australia.
⁸ University of Sydney Institute of Bone and Joint Research, Sydney, Australia.
⁹ Florance and Cope Professorial Unit, Royal North Shore Hospital, Sydney, Australia.
¹⁰ Queensland Medical Laboratories, Brisbane, Australia.
¹¹ Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, Australia.
¹² St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia. t.phan@garvan.org.au.
¹³ Immunology Division, Garvan Institute of Medical Research, Sydney, Australia. t.phan@garvan.org.au.

No abstract available

Publication types