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LetterLetter

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

KEISUKE MAESHIMA, KOJI ISHII and HIROTAKA SHIBATA
The Journal of Rheumatology March 2019, 46 (3) 325-327; DOI: https://doi.org/10.3899/jrheum.180210
KEISUKE MAESHIMA
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  • For correspondence: maeshima@oita-u.ac.jp
KOJI ISHII
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HIROTAKA SHIBATA
Department of Endocrinology, Metabolism, Rheumatology and Nephrology, Faculty of Medicine, Oita University, Oita, Japan.
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    Figure 1.

    Images of CT angiography at diagnosis of Takayasu arteritis at the age of 21 years. CT: computed tomography.

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    A. Flow cytometric analysis of peripheral blood from the patient demonstrating low percentage of regulatory T cells (normal values, FoxP3+ of CD4+: 4–8%). The populations of CD4/8, naive, and memory T cells were normal. B. Flow cytometric analysis of IL-17A and IFN-γ secretion by peripheral CD4+ cells stimulated with phorbol myristate acetate/ionomycin for 4 h prior to intracellular staining (normal values, IL-17+ of CD4+: 6–22%). C. Sanger DNA sequencing chromatogram of the mutated STAT1 gene. Protein-coding exons and their intronic boundaries of 45 genes, including STAT1, were sequenced as PCR products on an ABI 3130/3730 capillary sequencer (Thermo Fisher Scientific) and/or a MiSeq next-generation sequencer (Illumina). IL: interleukin; IFN: interferon.

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The Journal of Rheumatology
Vol. 46, Issue 3
1 Mar 2019
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An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases
KEISUKE MAESHIMA, KOJI ISHII, HIROTAKA SHIBATA
The Journal of Rheumatology Mar 2019, 46 (3) 325-327; DOI: 10.3899/jrheum.180210

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An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases
KEISUKE MAESHIMA, KOJI ISHII, HIROTAKA SHIBATA
The Journal of Rheumatology Mar 2019, 46 (3) 325-327; DOI: 10.3899/jrheum.180210
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