Presentation is loading. Please wait.

Presentation is loading. Please wait.

Aaruni Khanolkar, MBBS, PhD, Dawn A. Kirschmann, PhD, Edward A

Published byIvan Makmur Modified over 5 years ago

Similar presentations

Presentation on theme: "Aaruni Khanolkar, MBBS, PhD, Dawn A. Kirschmann, PhD, Edward A"— Presentation transcript:

1 CD4 T cell–restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency 
Aaruni Khanolkar, MBBS, PhD, Dawn A. Kirschmann, PhD, Edward A. Caparelli, BS, Jeffrey D. Wilks, BS, Jillian M. Cerullo, BS, Jenna R.E. Bergerson, MD, MPH, Lawrence J. Jennings, MD, PhD, Ramsay L. Fuleihan, MD  Journal of Allergy and Clinical Immunology  Volume 141, Issue 1, Pages e7 (January 2018) DOI: /j.jaci Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Assessment of signaling and phenotypic properties of lymphocytes. A, Evaluation of pSTAT1 signal after rhIFN-γ treatment. B, IFN-γR1 surface expression. Ab, Antibody. C, i to iii and v, pSTAT5 signal measured after treatment with rhIL-2 with or without anti–IFN-γ antibody. C, iv, pSTAT1 signal measured after treatment with rhIFN-γ with or without anti–IFN-γ antibody. See the Methods section in this article's Online Repository at for additional details. Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Sanger sequencing of exons 4 and 5 of IFNGR1. DNA was extracted from peripheral blood and sequenced, as described in the Methods section. A deletion in exon 4 leading to a frameshift was observed in both the proband and mother. Conversely, a single nucleotide variant in exon 5 creating a premature termination codon was observed in both the proband and father. Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E2 T cell–associated signaling properties and IL-2 receptor expression. A, Evaluation of pSTAT signals after treatment with the indicated cytokines. B, CD25 and CD122 expression patterns. Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E3 Intracellular cytokine expression profile of T-cell subsets. Expression of the listed cytokine molecules was evaluated in the cytosol of the indicated T-cell subsets in the absense and presence of phorbol 12-myristate 13-acetate/ionomycin (PMA/Ion). Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E4 Examination of potential cross-interference between IFN-γ and IL-2 signaling pathways. Whole blood sample aliquots from a healthy control subject were pretreated with graded doses of either rhIFN-γ (A) or rhIL-2 (B), followed by conventional Phosflow stimulation with the listed cytokines. The indicated pSTAT molecules were assessed. See the Methods section in this article's Online Repository for additional details. Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

7 Fig E5 IFN-γ and IL-2 signaling in an unrelated 17-month-old patient with a confirmed STAT1 defect. A, Evaluation of pSTAT1 signal after treatment with rhIFN-γ. B, Evaluation of pSTAT5 signal after treatment with rhIL-2. Journal of Allergy and Clinical Immunology  , e7DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "Aaruni Khanolkar, MBBS, PhD, Dawn A. Kirschmann, PhD, Edward A"

Similar presentations

Monica G. Lawrence, MD, Jennifer W. Leiding, MD, Jonathan J

Monica G. Lawrence, MD, Jennifer W. Leiding, MD, Jonathan J
Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion 

Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion 
Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood  Glynis Frans, MPharm, Leen Moens, PhD, Heidi.

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood  Glynis Frans, MPharm, Leen Moens, PhD, Heidi.
Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 
Immunologic defects in 22q11.2 deletion syndrome

Immunologic defects in 22q11.2 deletion syndrome
IL-10 disrupts the Brd4-docking sites to inhibit LPS-induced CXCL8 and TNF-α expression in monocytes: Implications for chronic obstructive pulmonary disease 

IL-10 disrupts the Brd4-docking sites to inhibit LPS-induced CXCL8 and TNF-α expression in monocytes: Implications for chronic obstructive pulmonary disease 
T-cell regulation during viral and nonviral asthma exacerbations

T-cell regulation during viral and nonviral asthma exacerbations
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,
Anti–IL-5 (mepolizumab) therapy reduces eosinophil activation ex vivo and increases IL- 5 and IL-5 receptor levels  Miguel L. Stein, MD, Joyce M. Villanueva,

Anti–IL-5 (mepolizumab) therapy reduces eosinophil activation ex vivo and increases IL- 5 and IL-5 receptor levels  Miguel L. Stein, MD, Joyce M. Villanueva,
Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion 

Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion 
IL-4 confers resistance to IL-27–mediated suppression on CD4+ T cells by impairing signal transducer and activator of transcription 1 signaling  Zhihong.

IL-4 confers resistance to IL-27–mediated suppression on CD4+ T cells by impairing signal transducer and activator of transcription 1 signaling  Zhihong.
Der p 1 suppresses indoleamine 2, 3-dioxygenase in dendritic cells from house dust mite–sensitive patients with asthma  Kittipong Maneechotesuwan, MD,

Der p 1 suppresses indoleamine 2, 3-dioxygenase in dendritic cells from house dust mite–sensitive patients with asthma  Kittipong Maneechotesuwan, MD,
Birch pollen immunotherapy results in long-term loss of Bet v 1–specific TH2 responses, transient TR1 activation, and synthesis of IgE-blocking antibodies 

Birch pollen immunotherapy results in long-term loss of Bet v 1–specific TH2 responses, transient TR1 activation, and synthesis of IgE-blocking antibodies 
IL-2 consumption by highly activated CD8 T cells induces regulatory T-cell dysfunction in patients with hemophagocytic lymphohistiocytosis  Stéphanie.

IL-2 consumption by highly activated CD8 T cells induces regulatory T-cell dysfunction in patients with hemophagocytic lymphohistiocytosis  Stéphanie.
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?
Maternal allergy modulates cord blood hematopoietic progenitor Toll-like receptor expression and function  Pia Reece, BSc, Amudhinie Thanendran, BSc,

Maternal allergy modulates cord blood hematopoietic progenitor Toll-like receptor expression and function  Pia Reece, BSc, Amudhinie Thanendran, BSc,
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 
Yuichi Teraki, MD, Aika Sakurai, MD, Seiichi Izaki, MD 

Yuichi Teraki, MD, Aika Sakurai, MD, Seiichi Izaki, MD 
The Wiskott-Aldrich syndrome

The Wiskott-Aldrich syndrome
Signaling impairments in maternal T cells engrafted in an infant with a novel IL-2 receptor γ mutation  Aaruni Khanolkar, MBBS, PhD, Jeffrey D. Wilks,

Signaling impairments in maternal T cells engrafted in an infant with a novel IL-2 receptor γ mutation  Aaruni Khanolkar, MBBS, PhD, Jeffrey D. Wilks,

Similar presentations

Ads by Google