Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo,

Slides:

Advertisements

Similar presentations

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

Advertisements

Maria B. Sukkar, PhD, Shaoping Xie, PhD, Nadia M

Immacolata Brigida, PhD, Aisha V

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

The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency Rita Carsetti, MD, Maria Manuela Rosado, PhD, Simona.

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease Nicola Cotugno, MD, Andrea Finocchi,

Expression of IL-9 receptor α chain on human germinal center B cells modulates IgE secretion Lama M. Fawaz, PhD, Ehssan Sharif-Askari, PhD, Oumnia Hajoui,

Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion

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

Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali,

Margaretha A. Faber, MD, Vito Sabato, MD, Chris H

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

Defective B-cell proliferation and maintenance of long-term memory in patients with chronic granulomatous disease Nicola Cotugno, MD, Andrea Finocchi,

Early-onset monocyte–B–natural killer–dendritic cells’ deficiency successfully treated with hematopoietic stem cell transplantation Caterina Cancrini,

B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome Maria Carmina Castiello, PhD, Samantha.

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

Reduced IFN-γ receptor expression and attenuated IFN-γ response by dendritic cells in patients with atopic dermatitis Eva Gros, MSc, Susanne Petzold,

Human B cells promote T-cell plasticity to optimize antibody response by inducing coexpression of TH1/TFH signatures Jelle de Wit, PhD, Tineke Jorritsma,

Immunologic defects in 22q11.2 deletion syndrome

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 C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous.

Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation Vassilios Lougaris, MD, Manuela Baronio, PhD, Massimiliano Vitali, PhD,

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal- dominant gain-of-phosphorylation STAT1 mutations Pamela P.W. Lee,

Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation Almut Meyer-Bahlburg,

Assessing basophil activation by using flow cytometry and mass cytometry in blood stored 24 hours before analysis Kaori Mukai, PhD, Nicolas Gaudenzio,

Topical application of a vitamin D3 analogue and corticosteroid to psoriasis plaques decreases skin infiltration of TH17 cells and their ex vivo expansion

Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions Mauro Giacomelli, PhD, Rajesh.

Identification of a subset of human natural killer cells expressing high levels of programmed death 1: A phenotypic and functional characterization Silvia.

In vivo T-cell dynamics during immune reconstitution after hematopoietic stem cell gene therapy in adenosine deaminase severe combined immune deficiency

IL-2 consumption by highly activated CD8 T cells induces regulatory T-cell dysfunction in patients with hemophagocytic lymphohistiocytosis Stéphanie.

Lung T-cell responses to nontypeable Haemophilus influenzae in patients with chronic obstructive pulmonary disease Paul T. King, MD, PhD, Steven Lim,

Inflammation in common variable immunodeficiency is associated with a distinct CD8+ response to cytomegalovirus Sayed Mahdi Marashi, PhD, Mohammad Raeiszadeh,

Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells—clinical applications in primary immunodeficiency diagnostics

Dawn C. Newcomb, PhD, Madison G

CD19 controls Toll-like receptor 9 responses in human B cells

Miriam Wittmann, MD, Jana Zeitvogel, Dong Wang, MD, Thomas Werfel, MD

Kathleen R. Bartemes, BA, Gail M. Kephart, BS, Stephanie J

CD94/NKG2C is a killer effector molecule in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis Esther Morel, PhD, Salvador Escamochero,

T-box 21 transcription factor is responsible for distorted TH2 differentiation in human peripheral CD4+ T cells Osamu Kaminuma, DVM, PhD, Fujiko Kitamura,

Inhibition of human B-cell development into plasmablasts by histone deacetylase inhibitor valproic acid Anne-Kathrin Kienzler, MSc, Marta Rizzi, MD,

Defective B-cell memory in patients with Down syndrome

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

Role of hyaluronan and hyaluronan-binding proteins in human asthma

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations Giovanna.

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization.

Elucidating the effects of disease-causing mutations on STAT3 function in autosomal- dominant hyper-IgE syndrome Simon J. Pelham, MSc, Helen C. Lenthall,

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes.

Jon Genuneit, MD, MSc 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.

Baricitinib treatment in a patient with a gain-of-function mutation in signal transducer and activator of transcription 1 (STAT1) Kornvalee Meesilpavikkai,

Expression of IL-9 receptor α chain on human germinal center B cells modulates IgE secretion Lama M. Fawaz, PhD, Ehssan Sharif-Askari, PhD, Oumnia Hajoui,

IκB kinase–driven nuclear factor-κB activation in patients with asthma and chronic obstructive pulmonary disease Rosalia Gagliardo, PhD, Pascal Chanez,

Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes Rebeca Pérez de Diego, PhD, Eduardo López-Granados, MD, PhD,

Josée Lamoureux, PhD, Jana Stankova, PhD, Marek Rola-Pleszczynski, MD

Dysregulated extracellular signal-regulated kinase signaling associated with impaired B- cell receptor endocytosis in patients with common variable immunodeficiency

Persistence of natural killer cells with expansion of a hypofunctional CD56−CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3–deficient.

Matthew J. Loza, PhD, Susan Foster, PhD, Stephen P

Sara Paveglio, PhD, MS, Erin Bennett, MS, Kelly L. Hawley, PhD, Adam P

Harald Renz, MD, Chaya Brodie, PhD, Katherine Bradley, BS, Donald Y. M

Allergen-specific immunotherapy modulates the balance of circulating Tfh and Tfr cells Véronique Schulten, PhD, Victoria Tripple, BSc, Grégory Seumois,

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects Polina Stepensky, MD,

Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency

Jenny Seltmann, PhD, Lennart M

Regulation of IL-13 receptor α1 expression and signaling on human tonsillar B- lymphocyte subsets Oumnia Hajoui, PhD, Huaien Zheng, MD, PhD, Julie Guay,

Janet Chou, MD, Maxim Lutskiy, MD, PhD, Erdyni Tsitsikov, PhD, Luigi D

Thymic stromal lymphopoietin does not activate human basophils

Soybean isoflavones regulate dendritic cell function and suppress allergic sensitization to peanut Madhan Masilamani, PhD, John Wei, BA, Shiven Bhatt,

Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells Yifang Gao, PhD, Sarita Workman, MSc,

Transforming growth factor β1 increases fibronectin deposition through integrin receptor α5β1 on human airway smooth muscle Lyn M. Moir, PhD, Janette.

Perturbations of natural killer cell regulatory functions in respiratory allergic diseases Francesca Scordamaglia, MD, Mirna Balsamo, PhD, Antonio Scordamaglia,

Presentation transcript:

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma Alessia Scarselli, MD, Silvia Di Cesare, BSc, Gigliola Di Matteo, BSc, PhD, Arianna De Matteis, MD, Paola Ariganello, MD, Maria Luisa Romiti, BSc, PhD, Simona Cascioli, BSc, Rita De Vito, MD, Alice Bertaina, MD, PhD, Franco Locatelli, MD, PhD, H. Bobby Gaspar, MD, PhD, Alessandro Aiuti, MD, PhD, Paolo Rossi, MD, PhD, Kimberly Gilmour, MD, PhD, Caterina Cancrini, MD, PhD Journal of Allergy and Clinical Immunology Volume 137, Issue 3, Pages 948-951.e5 (March 2016) DOI: 10.1016/j.jaci.2015.09.017 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A and B, Defective JAK3 expression and signaling. Fig 1, A, Percentage (I) and median fluorescence intensity (MFI) (II) of STAT5+ cells gated on patient's CD4+CD45RO+ after IL-2 stimulation for 10 minutes at the indicated concentrations compared with those of the parents and brother. Data are shown as difference between stimulated and unstimulated samples. (III) STAT5+ cells on EBV cell lines (difference between stimulated and unstimulated) after IL-2 and IL-15 stimulation compared with healthy donor (HD). Fig 1, B, (I) Western blot analysis of whole-cell extracts from EBV-transformed B lymphocytes of JAK3-mutated patient and HD. (II) IL-2 stimulation of JAK3 tyrosine phosphorylation. Lysates were immunoprecipitated with an antibody to JAK3 and then immunoblotted with an antiphosphotyrosine antibody. Pt, Patient. Journal of Allergy and Clinical Immunology 2016 137, 948-951.e5DOI: (10.1016/j.jaci.2015.09.017) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Cutaneous and tendons biopsy (E&E10×). Inflammatory process with lymphohistiocytic infiltration in dermis (A) and tendon (B) forming nonnecrotizing granuloma. Journal of Allergy and Clinical Immunology 2016 137, 948-951.e5DOI: (10.1016/j.jaci.2015.09.017) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 CpG response. A, Contour plots show the staining of B cells in the absence or presence of CpG. The gates identify the different B-cell populations: IgM+ and IgM− CD27bright plasma cells, CD27+ memory B cells, which are either IgM memory (IgM+) or switched memory (IgM−), and mature B cells. The numbers indicate the percentages of these subpopulations in the B-cell gate. B, The histograms represent the concentration (μg/mL) of IgM (black column), IgA (white column), and IgG (gray column) antibodies in the supernatants of 7-day cultures with CpG in healthy control and the patient. UNT, Unstimulated. Journal of Allergy and Clinical Immunology 2016 137, 948-951.e5DOI: (10.1016/j.jaci.2015.09.017) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E3 Analysis of TCR diversity. TCRVβ spectratyping of CD3+ T cells showed a skewed pattern. Journal of Allergy and Clinical Immunology 2016 137, 948-951.e5DOI: (10.1016/j.jaci.2015.09.017) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions