EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease David C. Thomas, MD, PhD, Louis-Marie Charbonnier, PhD, Andrea.

Slides:

Advertisements

Similar presentations

Joint modeling of parentally reported and physician-confirmed wheeze identifies children with persistent troublesome wheezing Danielle C.M. Belgrave, MSc,

Advertisements

A bioinformatics approach to identify patients with symptomatic peanut allergy using peptide microarray immunoassay Jing Lin, PhD, Francesca M. Bruni,

Early exposure to cow's milk protein is protective against IgE-mediated cow's milk protein allergy Yitzhak Katz, MD, Nelly Rajuan, MSc, Michael R. Goldberg,

Transient receptor potential vanilloid 1 (TRPV1) antagonism in patients with refractory chronic cough: A double-blind randomized controlled trial Saifudin.

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis Giuliana Giardino,

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of.

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-α 2b therapy Sevgi Keles, MD, Haifa H. Jabara,

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency Chiara Bacchelli, PhD, Federico A. Moretti,

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood Glynis Frans, MPharm, Leen Moens, PhD, Heidi.

Defects of class-switch recombination

Zeynep Yesim Kucuk, MD, Louis-Marie Charbonnier, PhD, Richard L

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency Chiara Bacchelli, PhD, Federico A. Moretti,

The Editors' Choice Journal of Allergy and Clinical Immunology

Is 9 more than 2 also in allergic airway inflammation?

David J. Cousins, PhD, Joanne McDonald, BSc, Tak H. Lee, MD, ScD

Bullous pemphigoid outcome is associated with CXCL10-induced matrix metalloproteinase 9 secretion from monocytes and neutrophils but not lymphocytes

Lieuwe D. Bos, MSc, PhD, Peter J. Sterk, MD, PhD, Stephen J

Vaccine development for allergen-specific immunotherapy based on recombinant allergens and synthetic allergen peptides: Lessons from the past and novel.

The Wiskott-Aldrich syndrome

Clinical studies of the DP1 antagonist laropiprant in asthma and allergic rhinitis George Philip, MD, Janet van Adelsberg, MD, Thomas Loeys, PhD, Nancy.

The National Biome Initiative: An allergy perspective

Giorgia Santilli, Adrian J. Thrasher Molecular Therapy

Hematopoietic stem cell transplantation corrects WIP deficiency

Practice Notes from the AAAAI

Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor–dependent innate antiviral immune responses Douglas R. McDonald, MD, PhD,

Combating high-priority biological agents

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis Giuliana Giardino,

Prevalence of aspirin-exacerbated respiratory disease among asthmatic patients: A meta-analysis of the literature Jessica P. Rajan, MD, Nathan E. Wineinger,

Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription.

Mast cell activation syndrome: Proposed diagnostic criteria

Cytosolic phospholipase A2 group IVA is overexpressed in patients with persistent asthma and regulated by the promoter microsatellites Milena Sokolowska,

News & Notes Journal of Allergy and Clinical Immunology

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of.

Talal Mousallem, MD, Thomas J. Urban, PharmD, PhD, K

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation Fayhan J. Alroqi, MD,

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly Ali Sobh, MD, Elena Crestani, MD, Brittney Cangemi,

Autophagy: Nobel Prize 2016 and allergy and asthma research

News & Notes Journal of Allergy and Clinical Immunology

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment

Giorgia Santilli, Adrian J. Thrasher Molecular Therapy

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency Heidi Schaballie, MD, Rémy Rodriguez, MS, Emmanuel Martin, PhD, Leen Moens,

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Mary F. Linehan, PhD, Timothy L. Frank, MD, Michelle L

News Beyond Our Pages Journal of Allergy and Clinical Immunology

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Association between climate factors, pollen counts, and childhood hay fever prevalence in the United States Jonathan I. Silverberg, MD, PhD, MPH, Marc.

Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression Nourhen Agrebi, PhD, Lamia Sfaihi.

Katie Frith, MD, Anne-Laure Joly, PhD, Cindy S. Ma, PhD, Stuart G

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients Mustafa Yavuz Köker, MD, PhD, Yıldız Camcıoğlu,

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Siobhan O. Burns, MD, PhD, Helen L

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X- linked–like syndrome, and defective IL-10 expression from CD4 lymphocytes

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Inflammation-mediated upregulation of centrosomal protein 110, a negative modulator of ciliogenesis, in patients with chronic rhinosinusitis Yinyan Lai,

First reported case of Omenn syndrome in a patient with reticular dysgenesis Lauren A. Henderson, MD, Francesco Frugoni, PhD, Gregory Hopkins, BS, Waleed.

News & Notes Journal of Allergy and Clinical Immunology

News Beyond Our Pages Journal of Allergy and Clinical Immunology

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Effect of codeine on objective measurement of cough in chronic obstructive pulmonary disease Jaclyn Smith, MD, PhD, Emily Owen, MPhil, John Earis, MD,

Natural history of cow’s milk allergy

In lasting tribute: Burton Zweiman, June 7, 1931–December 24, 2013

Primary prevention of asthma and allergy

Combined immunodeficiency in a patient with c-Rel deficiency

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ Siobhan O. Burns, MD, PhD, Vincent Plagnol,

News Beyond Our Pages Journal of Allergy and Clinical Immunology

Advances in mechanisms of allergic disease in 2016

E. Rand Sutherland, MD, MPH, Barry J

Presentation transcript:

EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease David C. Thomas, MD, PhD, Louis-Marie Charbonnier, PhD, Andrea Schejtman, MSc, Hasan Aldhekri, MD, PhD, Eve L. Coomber, MSci, Elizabeth R. Dufficy, MRes, Anne E. Beenken, MPhil, James C. Lee, MD, PhD, Simon Clare, PhD, Anneliese O. Speak, PhD, Adrian J. Thrasher, MD, PhD, Giorgia Santilli, PhD, Hamoud Al-Mousa, MD, PhD, Fowzan S. Alkuraya, MD, PhD, Talal A. Chatila, MD, PhD, Kenneth G.C. Smith, MD, PhD Journal of Allergy and Clinical Immunology Volume 143, Issue 2, Pages 782-785.e1 (February 2019) DOI: 10.1016/j.jaci.2018.09.019 Copyright © 2018 Terms and Conditions

Fig 1 EROS function is conserved in humans. Western blot of EROS (A), gp91phox (B), p22phox (C), surface gp91phox expression (D), and phagocyte respiratory burst in CRISPR targeted PLB-985 clones (E). F, Surface expression of gp91phox in CRISPR targeted cells ± overexpression of EROS-GFP. G, NBT reduction following reconstitution with EROS-GFP lentiviral vector. Representative of 3 independent experiments. NBT, Nitro blue tetrazolium chloride. Journal of Allergy and Clinical Immunology 2019 143, 782-785.e1DOI: (10.1016/j.jaci.2018.09.019) Copyright © 2018 Terms and Conditions

Fig 2 Homozygous EROS mutation has deleterious effects. A and B, Respiratory burst in patient and healthy control neutrophils. C, Homozygous c.127 G to A mutation. D, EROS protein expression in CD3/CD2/CD28–expanded PBMCs from patient, sister, and a healthy control, control CD4+ T cells before and after CD3/CD2/CD28, or PBMCs from a further healthy control. Representative of 2-3 independent experiments. Journal of Allergy and Clinical Immunology 2019 143, 782-785.e1DOI: (10.1016/j.jaci.2018.09.019) Copyright © 2018 Terms and Conditions

Fig E1 Targeting of EROS for deletion by CRISPR-Cas9. A, Schematic representation of the human CYBC1 genomic locus and of guide RNA targeting exon 3. B and C, Sequencing analysis from 2 clones derived from PLB985 cells that had been electroporated with Cas9:gRNA ribonucleoprotein complex, showing deletion of 8 bp in clone 14 and deletion of 1 bp in clone 20. Journal of Allergy and Clinical Immunology 2019 143, 782-785.e1DOI: (10.1016/j.jaci.2018.09.019) Copyright © 2018 Terms and Conditions