Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation– related primary immunodeficiency is associated with disseminated.

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Presentation transcript:

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation– related primary immunodeficiency is associated with disseminated mucormycosis Nilay Kumar, MD, Mary E. Hanks, BSc, Prabha Chandrasekaran, PhD, Brian C. Davis, MD, Amy P. Hsu, BA, Nicholas J. Van Wagoner, MD, Jessica S. Merlin, MD, Christine Spalding, BSc, Ricardo M. La Hoz, MD, Steven M. Holland, MD, Christa S. Zerbe, MD, Elizabeth P. Sampaio, MD, PhD Journal of Allergy and Clinical Immunology Volume 134, Issue 1, Pages 236-239 (July 2014) DOI: 10.1016/j.jaci.2014.02.037 Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, Chest magnetic resonance imaging. Lesions are visible in the right lung (top panels), right supraspinatus (arrows, middle panels), and deltoid (lower panels). B, Brain magnetic resonance imaging T2W images: thick-walled right temporal lobe lesion (left) and enhancement of the right muscles of mastication (right). C, Cardiac magnetic resonance imaging: pericardial effusion with mild right ventricular collapse. D, Hematoxylin and eosin inguinal lymph node biopsy (left) with intense eosinophilic infiltrate and Charcot-Leyden crystals (arrow). Silver stain of the deltoid muscle is shown at right. Aseptate fungal elements with 90° branching hyphae were observed (arrow). Journal of Allergy and Clinical Immunology 2014 134, 236-239DOI: (10.1016/j.jaci.2014.02.037) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 A and B, Immunoblotting (STAT1 phosphorylation [pSTAT1]) of PBMCs (Fig 2, A) and EBV-B cells (Fig 2, B) from patients (E370, current patient; E353K, control subject with GOF mutation; M654K, control subject with LOF mutation) and healthy control subjects (HC) were stimulated or not (NS) with IFN-γ. C, pSTAT1 dephosphorylation (30-180 minutes) in EBV-B cells determined by means of flow cytometry. MFI, Mean fluorescence intensity. D, Luciferase activity on U3A cells transfected with wild-type or mutant STAT1 (E370D, E353K, L706S, and M654K-LOF controls). Data are means ± SEMs (n = 3). E, Evaluation of TNF-α production (in picograms per milliliter) using the bead cytokine assay from PBMCs of patients and healthy control subjects (n = 4) in response to LPS and IFN-γ. *,#P < .05 versus wild-type. Journal of Allergy and Clinical Immunology 2014 134, 236-239DOI: (10.1016/j.jaci.2014.02.037) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions