Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription.

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Presentation transcript:

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain- of-function mutation Shinsuke Kataoka, MD, Hideki Muramatsu, MD, PhD, Yusuke Okuno, MD, PhD, Yuta Hayashi, MD, Yoko Mizoguchi, MD, PhD, Miyuki Tsumura, MD, PhD, Satoshi Okada, MD, PhD, Masao Kobayashi, MD, PhD, Chiaki Sano, MD, PhD, Haruki Sato, DDS, PhD, Ichiro Oh- iwa, DDS, PhD, Masahumi Ito, MD, PhD, Daiei Kojima, MD, Asahito Hama, MD, PhD, Yoshiyuki Takahashi, MD, PhD, Seiji Kojima, MD, PhD Journal of Allergy and Clinical Immunology Volume 137, Issue 2, Pages 619-622.e1 (February 2016) DOI: 10.1016/j.jaci.2015.06.028 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Clinical presentation of the patients. A, Cutaneous candidiasis on the sole side of the foot in proband. B, Contrast-enhanced abdominal computed tomography scan of proband. Yellow arrowheads indicate enlarged intestinal lymph nodes with calcification. C, Duodenal mucosa specimen of proband showing infiltration of inflammatory cells including histiocytes. D, Oral cavity of mother. White and yellow arrowheads indicate oral candidiasis lesions on tongue and lower gingival cancer, respectively. E and F, Hematoxylin and eosin staining of samples from the oral lesion. Journal of Allergy and Clinical Immunology 2016 137, 619-622.e1DOI: (10.1016/j.jaci.2015.06.028) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Genetic and functional analysis. A, Pedigree chart. Arrow indicates the proband. B, Sanger sequencing. A heterozygous c.821G>A (p.Arg274Gln) mutation was identified in proband and his mother. C, Immunoblot analysis of pSTAT1. PBMCs were stimulated with IFN-γ and subsequently treated with staurosporine. D, Antimycobacterial activity. Monocytes/macrophages (1 × 106 cells/mL) were infected with Mycobacterium avium N-260 (1 × 107 CFU/mL) and cultured for 5 days. Open and filled circles indicate healthy control and proband, respectively. *P = .019. Journal of Allergy and Clinical Immunology 2016 137, 619-622.e1DOI: (10.1016/j.jaci.2015.06.028) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Flow cytometric analysis of the patients' monocytes. PBMCs were stimulated in the presence of IFN-γ (1000 U/mL) for 15 minutes. After stimulation, cells were washed, incubated for another 15 minutes with or without staurosporine (0.5 μM), permeablized with Phosflow Perm Buffer III (BD Biosciences, Tokyo, Japan), and stained with FITC-conjugated anti–CD14 antibody and PE-conjugated anti–phospho-STAT1 (pY701) antibody. FITC, Fluorescein isothiocyanate; PE, phycoerythrin. Journal of Allergy and Clinical Immunology 2016 137, 619-622.e1DOI: (10.1016/j.jaci.2015.06.028) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions