Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP

J Clin Immunol. 2020 Apr;40(3):547-550. doi: 10.1007/s10875-020-00768-9. Epub 2020 Mar 7.

¹ Department of Allergy and Immunology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia. [email protected].
² Department of Immunopathology, SA Pathology at Women's and Children's Campus, North Adelaide, South Australia, 5006, Australia.
³ Department of Clinical Immunology and Allergy, Royal Melbourne Hospital, Parkville, 3050, Australia.
⁴ Douglass Hanly Moir Pathology, Macquarie Park, New South Wales, 2113, Australia.
⁵ Department of Allergy and Immunology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.
⁶ School of Medicine, The Robinson Research Institute and School of Biological Science, University of Adelaide, Adelaide, South Australia, 5006, Australia.

No abstract available

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