Presentation is loading. Please wait.

Presentation is loading. Please wait.

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou,

Published byἘπίκτητος Παπαδάκης Modified over 5 years ago

Similar presentations

Presentation on theme: "Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou,"— Presentation transcript:

1 Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou, MD, Lynda Schneider, MD, Raif S. Geha, MD, Michel J. Massaad, PhD  Journal of Allergy and Clinical Immunology  Volume 138, Issue 1, Pages (July 2016) DOI: /j.jaci Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 GOF mutation in STAT1. A, Sanger sequencing chromatograms. B, Multiple protein alignment of STAT1 showing the conserved H629. C, Representative histogram of pSTAT1 in EBV-B cells. D, Representative immunoblot of cytoplasmic and nuclear fractions. GAPDH (cytoplasm) and PARP-1 (nucleus) were used as markers. E-F, IL-17A and IL-2 secretion by PBMCs (Fig 1, E) and IP-10 secretion by EBV-B cells (Fig 1, F). Columns and bars represent mean ± SEM of 3 controls and the patient cells in triplicate. Ctrl, Control; GAPDH, Glyceraldehyde-3-phosphate dehydrogenase; IP-10, IFN-γ–induced protein-10; ND, not detected; PARP-1, poly (ADP-Ribose) polymerase 1; Pt, patient. *P < .05 and ***P < .001. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Increased phosphorylation and normal dephosphorylation of H629Y mutant STAT1. A and B, Kinetics of STAT1 phosphorylation in EBV-B cells from the patient and controls without (Fig 2, A) or with the addition of orthovanadate (Fig 2, B). C and D, Decay of pSTAT1 levels (Fig 2, C) and rate of pSTAT1 dephosphorylation (Fig 2, D) in EBV-B cells, following the addition of staurosporine (time 0) for the indicated times. The values in Figure 2, A to D, are from 3 independent experiments using 3 controls and the patient cells in triplicate. Statistics were done by 2-way ANOVA. Ctrl, Control; MFI, mean fluorescence intensity; NS, not significant; Pt, patient. ***P < .001. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation  Ali Sobh, MD, Janet Chou,"

Similar presentations

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.
Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy 

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy 
Maria B. Sukkar, PhD, Shaoping Xie, PhD, Nadia M

Maria B. Sukkar, PhD, Shaoping Xie, PhD, Nadia M
D-dimer: A biomarker for antihistamine-resistant chronic urticaria

D-dimer: A biomarker for antihistamine-resistant chronic urticaria
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum  Li Gao, MD,

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum  Li Gao, MD,
Janet Chou, MD, Yousef R. Badran, MD, Christina S. K

Janet Chou, MD, Yousef R. Badran, MD, Christina S. K
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-α 2b therapy  Sevgi Keles, MD, Haifa H. Jabara,

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-α 2b therapy  Sevgi Keles, MD, Haifa H. Jabara,
Inhaled long-acting β2 agonists enhance glucocorticoid receptor nuclear translocation and efficacy in sputum macrophages in COPD  Rubaiyat Haque, MBBS,

Inhaled long-acting β2 agonists enhance glucocorticoid receptor nuclear translocation and efficacy in sputum macrophages in COPD  Rubaiyat Haque, MBBS,
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency  Haifa H. Jabara, BSc, Toshiro Ohsumi, PhD,

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency  Haifa H. Jabara, BSc, Toshiro Ohsumi, PhD,
Laurent L'homme, PhD, David Dombrowicz, PhD 

Laurent L'homme, PhD, David Dombrowicz, PhD 
Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy 

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy 
Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 
Ann-Marie M. Schoos, MD, PhD, Jacob D

Ann-Marie M. Schoos, MD, PhD, Jacob D
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal- dominant gain-of-phosphorylation STAT1 mutations  Pamela P.W. Lee,

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal- dominant gain-of-phosphorylation STAT1 mutations  Pamela P.W. Lee,
Chronic rhinosinusitis with polyps and without polyps is associated with increased expression of suppressors of cytokine signaling 1 and 3  Se Jin Park,

Chronic rhinosinusitis with polyps and without polyps is associated with increased expression of suppressors of cytokine signaling 1 and 3  Se Jin Park,
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association  Christina S. Yee,

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association  Christina S. Yee,
Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells—clinical applications in primary immunodeficiency diagnostics 

Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells—clinical applications in primary immunodeficiency diagnostics 
Curcumin, a constituent of curry, suppresses IgE-mediated allergic response and mast cell activation at the level of Syk  Jun Ho Lee, PhD, Jie Wan Kim,

Curcumin, a constituent of curry, suppresses IgE-mediated allergic response and mast cell activation at the level of Syk  Jun Ho Lee, PhD, Jie Wan Kim,
Dawn C. Newcomb, PhD, Madison G

Dawn C. Newcomb, PhD, Madison G

Similar presentations

Ads by Google