Presentation is loading. Please wait.

Presentation is loading. Please wait.

Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency  Christina Gavino, MSc, Marija Landekic, MSc, Jibin.

Published byBrice Holt Modified over 5 years ago

Similar presentations

Presentation on theme: "Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency  Christina Gavino, MSc, Marija Landekic, MSc, Jibin."— Presentation transcript:

1 Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency 
Christina Gavino, MSc, Marija Landekic, MSc, Jibin Zeng, PhD, Ning Wu, PhD, Sungmi Jung, MD, Ming-Chao Zhong, PhD, Alexis Cohen-Blanchet, MSc, Mélanie Langelier, BScN, Odile Neyret, PhD, Duncan Lejtenyi, MSc, Claudia Rochefort, MD, Judith Cotton- Montpetit, BSc, Christine McCusker, MD, Bruce Mazer, MD, André Veillette, MD, Donald C. Vinh, MD  Journal of Allergy and Clinical Immunology  Volume 139, Issue 5, Pages e10 (May 2017) DOI: /j.jaci Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A, The c.1272C>T ZAP-70–altered splice site. B, Electropherograms from a healthy control (HC), P1, and P1's family. C, RT-PCR products from an HC, P1, and P1's family. D, Summary of densitometry analysis. E, Immunoblot of ZAP-70wt or ZAP-70mut transfected cells. F, The AMO binding site within the ZAP-70 pre-mRNA. An asterisk denotes the c.1272C>T mutation. G, RT-PCR products of AMO-treated P1 PBMCs. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 A, AMO-treated PBMCs from a healthy control (HC) or P1 stimulated with OKT3, with densitometry analysis summarized in B. C, AMO-treated HC or P1 PBMCs stimulated with CD3/CD28 as indicated. D, CFSE profiles of HC or P1 CD3/CD28-stimulated T cells, with percentages summarized in E. One experiment representative of at least 2 independent experiments is shown. CFSE, Carboxyfluorescein succinimidyl ester. *P < .05. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 A, P1 pedigree. An older brother had a papulo-squamous rash at age 1 month, recurrent otitis media, and died at 15 months following recurrent seizures, suspected to be viral encephalitis by imaging, electroencephalogram, and autopsy. B, During P1's first 2 years of life, summaries of investigations revealed decreased CD8+ T lymphocytes with very low T-cell mitogen (PHA and concanavailin A) proliferative responses. B lymphocytes were quantitatively normal with preserved proliferation in response to pokeweed mitogen. Circulating immunoglobulin concentrations (IgG, IgA, IgM) were normal, with IgE occasionally being slightly elevated. Subsequent investigations found no evidence of adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) deficiency with normal expression of HLA on B cells. C, T-cell lysates from P1 and a healthy control (HC) were analyzed by immunoblot with indicated antibodies. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E2 A, Well-circumscribed pink macules on the trunk torso. B, Hematoxylin and eosin stain demonstrating enlarged superficial keratinocytes with distinctive blue-gray cytoplasm in association with prominent keratohyaline granules, consistent with HPV infection. C, Immunohistochemical pan-HPV stain. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E3 A, A schematic representation of the ZAP-70 protein, with the asterisk denoting the location of the c.1272C>T mutation. B, Jurkat P116 cells were stimulated with OKT3 antibody and cell lysates were analyzed by immunoblot using antibodies specific for LAT and phospho-LAT. LAT, Linker for activation of T cells. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

7 Fig E4 Gating strategy for assessment of T-cell proliferation of CFSE-labeled, CD3/CD28-stimulated cells. APC, Allophycocyanin; CFSE, carboxyfluorescein succinimidyl ester; FITC, fluorescein isothiocyanate; PE, phycoerythrin. Journal of Allergy and Clinical Immunology  , e10DOI: ( /j.jaci ) Copyright © 2017 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency  Christina Gavino, MSc, Marija Landekic, MSc, Jibin."

Similar presentations

Immacolata Brigida, PhD, Aisha V

Immacolata Brigida, PhD, Aisha V
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 
CD4+CD25+ regulatory T cells suppress contact hypersensitivity reactions through a CD39, adenosine-dependent mechanism  Sabine Ring, PhD, Stephen J. Oliver,

CD4+CD25+ regulatory T cells suppress contact hypersensitivity reactions through a CD39, adenosine-dependent mechanism  Sabine Ring, PhD, Stephen J. Oliver,
Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma  Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo,

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma  Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo,
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.
Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency  Andrea Newell, BSc, Harjit Dadi, PhD, Rachel Goldberg, BSc, Bo-Yee Ngan, MD,

Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency  Andrea Newell, BSc, Harjit Dadi, PhD, Rachel Goldberg, BSc, Bo-Yee Ngan, MD,
Correlation of allergen-specific T follicular helper cell counts with specific IgE levels and efficacy of allergen immunotherapy  Yin Yao, MD, Cai-Ling.

Correlation of allergen-specific T follicular helper cell counts with specific IgE levels and efficacy of allergen immunotherapy  Yin Yao, MD, Cai-Ling.
Exploring the repertoire of IgE-binding self-antigens associated with atopic eczema  Sabine Zeller, MSc, Claudio Rhyner, PhD, Norbert Meyer, MD, Peter.

Exploring the repertoire of IgE-binding self-antigens associated with atopic eczema  Sabine Zeller, MSc, Claudio Rhyner, PhD, Norbert Meyer, MD, Peter.
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,
Delayed clinical and ex vivo response to mammalian meat in patients with IgE to galactose-alpha-1,3-galactose  Scott P. Commins, MD, PhD, Hayley R. James,

Delayed clinical and ex vivo response to mammalian meat in patients with IgE to galactose-alpha-1,3-galactose  Scott P. Commins, MD, PhD, Hayley R. James,
Let-7 microRNA–mediated regulation of IL-13 and allergic airway inflammation  Manish Kumar, MSc, Tanveer Ahmad, MSc, Amit Sharma, PhD, Ulaganathan Mabalirajan,

Let-7 microRNA–mediated regulation of IL-13 and allergic airway inflammation  Manish Kumar, MSc, Tanveer Ahmad, MSc, Amit Sharma, PhD, Ulaganathan Mabalirajan,
Decreased serum vitamin D levels in children with asthma are associated with increased corticosteroid use  Daniel A. Searing, MD, Yong Zhang, PhD, James.

Decreased serum vitamin D levels in children with asthma are associated with increased corticosteroid use  Daniel A. Searing, MD, Yong Zhang, PhD, James.
Disease-specific expression and regulation of CCAAT/enhancer-binding proteins in asthma and chronic obstructive pulmonary disease  Peter Borger, PhD,

Disease-specific expression and regulation of CCAAT/enhancer-binding proteins in asthma and chronic obstructive pulmonary disease  Peter Borger, PhD,
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity  Raquel.

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cell cytotoxicity  Raquel.
Regulation of GM-CSF expression by the transcription factor c-Maf

Regulation of GM-CSF expression by the transcription factor c-Maf
A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,

A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,
CD4+ T cells in patients with chronic inflammatory rheumatic disorders show distinct levels of exhaustion  Theresa Frenz, PhD, Elena Grabski, PhD, Daniela.

CD4+ T cells in patients with chronic inflammatory rheumatic disorders show distinct levels of exhaustion  Theresa Frenz, PhD, Elena Grabski, PhD, Daniela.
Immunologic defects in 22q11.2 deletion syndrome

Immunologic defects in 22q11.2 deletion syndrome
Ting-ting Zhang, MSc, Klaus Okkenhaug, PhD, Baher F

Ting-ting Zhang, MSc, Klaus Okkenhaug, PhD, Baher F
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment  Federica Cattaneo, MD, Mike.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment  Federica Cattaneo, MD, Mike.

Similar presentations

Ads by Google