Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of.

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Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of.

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Disseminated Mycobacterium genavense infection after immunosuppressive therapy shows underlying new composite heterozygous mutations of β1 subunit of IL-12 receptor gene Laura Tassone, PhD, Anna Cristina C. Carvalho, MD, PhD, Alessandra Calabresi, MD, Enrico Tortoli, MD, Alessandra Apostoli, MD, Omar Scomodon, PhD, Cecilia Spina, PhD, Donatella Vairo, PhD, Vincenzo Villanacci, MD, Alberto Matteelli, MD, Raffaele Badolato, MD, PhD Journal of Allergy and Clinical Immunology Volume 131, Issue 2, Pages 607-610 (February 2013) DOI: 10.1016/j.jaci.2012.05.041 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Histologic and immunologic characterization of a patient with Mycobacterium genavense infection. Sections of duodenal biopsies were obtained from a patient with M genavense infection (A-D) and stained for hematoxylin and eosin (A), periodic acid-Schiff (B), Ziehl-Neelsen (C), and CD68 (brown, D). Biopsies from the patient showed a moderate dermal mononuclear infiltrate in lamina propria (A), constituted by CD68+ macrophages (D) and containing Ziehl-Neelsen–positive bodies (C), whereas periodic acid-Schiff stain was negative (B). Magnification: ×40 (A and D), ×20 (B and C). Journal of Allergy and Clinical Immunology 2013 131, 607-610DOI: (10.1016/j.jaci.2012.05.041) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Abnormal response to Il-12 is associated to composite heterozygous mutations of IL12RB1. A, PHA-activated T lymphocytes from the patient (gray bar) or a healthy control subject (black bar) were stimulated with IL-12 (50, 200, or 500 ng/mL) or human anti-CD3 mAb 5 μg/mL or left unstimulated (medium). The supernatant fluids were collected after 96 hours and analyzed for the production of IFN-γ by FlowCytomix Assay. B, PHA-activated T lymphocytes from the patient (lower histograms) or a healthy control subject (upper histograms) were stained with anti-human IL12Rβ1 (clone 69310) mAb (left histograms, thick line) or anti-human IL12Rβ1 (clone 2.4E6) mAb (right histograms, thick line) or with matched isotype control (thin line), directly conjugated to phycoerythrin. C, STAT4 phosphorylation. Flow cytometric analysis of STAT4 phosphorylation of PHA-activated T lymphocytes after treatment with IL-12 (200 ng/mL; upper panel), IFN-α (10 U/μL; lower panel), or medium alone for 20 minutes at 37°C. Mean fluorescence intensity (MFI) is indicated. P, patient; C, control. D, Schematic representation of the 17 exons of wild-type and patient IL12Rβ1 mRNA. Coding exons are indicated with Roman numbers and delineated by vertical bars; exon 1 contains peptide leader sequence (L), and exon 14 contains the transmembrane domain. Journal of Allergy and Clinical Immunology 2013 131, 607-610DOI: (10.1016/j.jaci.2012.05.041) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions