Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Published byMercy Oliver Modified over 5 years ago

Similar presentations

Presentation on theme: "Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis  Giuliana Giardino,"— Presentation transcript:

1 Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis  Giuliana Giardino, MD, Vera Gallo, MD, Domenico Somma, PhD, Emily G. Farrow, PhD, Isabelle Thiffault, PhD, Roberta D'Assante, PhD, Vittoria Donofrio, MD, Mariateresa Paciolla, PhD, Matilde Valeria Ursini, PhD, Antonio Leonardi, MD, PhD, Carol J. Saunders, PhD, Claudio Pignata, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 137, Issue 5, Pages e4 (May 2016) DOI: /j.jaci Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 MYD88 deficiency impairs TLR and IL-1R responses of PBMCs. A, Family pedigree. The proband is indicated with an arrow. Healthy persons are shown in white; deceased siblings are indicated by line crossing. B, Genomic sequence analysis of MYD88 gene showing a homozygous in-frame deletion, c.196_198del GGA (p.Glu66del). Both parents are heterozygous for the same mutation. C-F, Real-time PCR analysis of the mRNA extracted from the patient's PBMCs stimulated with LPS, IL-1, TNF-α, and poly (I:C) (TLR3 ligand) revealed reduced levels of IL-6, IL-1, CCL2, and CCL3, as compared with the healthy control, in response to LPS and IL-1 stimulation, while they were normally induced after TNF-α and TLR3 stimulation. G and H, Fibroblasts from a healthy control and from the MYD88-deficient child, transiently transfected with an expression vector encoding wild-type (WT) MYD88. Cells from MyD88-deficient patient regained IL-1β and LPS responsiveness after transfection with the WT MYD88 gene, as shown by the levels of IL-1 and IL6. Y-axis values, on the right side, are referred to LPS stimulation. I, Western blotting using anti–FLAG-specific antibody to verify the transfection of patients' fibroblasts with plasmids carrying WT MYD88. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Clinical features. A and B, Axillary suppurative lymphadenitis of the left arm. C and D, Grocott stain revealed conspicuous infiltration of bacilli in the intestinal wall. E and F, Intestinal wall histology revealed vast areas of marginal necrosis, full-thickness massive edema, and inflammatory infiltrates. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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

Similar presentations

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO  Sofie E. Jørgensen, MS, Pernille Bøttger, PhD, Emil Kofod-Olsen,

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO  Sofie E. Jørgensen, MS, Pernille Bøttger, PhD, Emil Kofod-Olsen,
Maria B. Sukkar, PhD, Shaoping Xie, PhD, Nadia M

Maria B. Sukkar, PhD, Shaoping Xie, PhD, Nadia M
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis  Giuliana Giardino,

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.

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of.
A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene  Suna Büyüköztürk, MD, Belgin Kesim Eroğlu, MD, Aslı Gelincik, MD,

A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene  Suna Büyüköztürk, MD, Belgin Kesim Eroğlu, MD, Aslı Gelincik, MD,
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,
Forkhead box protein 3 in human nasal polyp regulatory T cells is regulated by the protein suppressor of cytokine signaling 3  Feng Lan, MD, Nan Zhang,

Forkhead box protein 3 in human nasal polyp regulatory T cells is regulated by the protein suppressor of cytokine signaling 3  Feng Lan, MD, Nan Zhang,
Critical link between glycogen synthase kinase 3β and forkhead box P3 in patients with chronic rhinosinusitis with nasal polyps  Xingmei Wu, MD, Sihua.

Critical link between glycogen synthase kinase 3β and forkhead box P3 in patients with chronic rhinosinusitis with nasal polyps  Xingmei Wu, MD, Sihua.
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.
Low E-prostanoid 2 receptor levels and deficient induction of the IL-1β/IL-1 type I receptor/COX-2 pathway: Vicious circle in patients with aspirin-exacerbated.

Low E-prostanoid 2 receptor levels and deficient induction of the IL-1β/IL-1 type I receptor/COX-2 pathway: Vicious circle in patients with aspirin-exacerbated.
Forkhead box protein 3 in human nasal polyp regulatory T cells is regulated by the protein suppressor of cytokine signaling 3  Feng Lan, MD, Nan Zhang,

Forkhead box protein 3 in human nasal polyp regulatory T cells is regulated by the protein suppressor of cytokine signaling 3  Feng Lan, MD, Nan Zhang,
BCG-osis and tuberculosis in a child with chronic granulomatous disease  Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de.

BCG-osis and tuberculosis in a child with chronic granulomatous disease  Jacinta Bustamante, MD, PhD, Guzide Aksu, MD, Guillaume Vogt, PhD, Ludovic de.
Airway microbiome and responses to corticosteroids in corticosteroid-resistant asthma patients treated with acid suppression medications  Elena Goleva,

Airway microbiome and responses to corticosteroids in corticosteroid-resistant asthma patients treated with acid suppression medications  Elena Goleva,
Elena Goleva, PhD, Leisa P. Jackson, BS, Melanie Gleason, PA, Donald Y

Elena Goleva, PhD, Leisa P. Jackson, BS, Melanie Gleason, PA, Donald Y
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency  Chiara Bacchelli, PhD, Federico A. Moretti,
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions  Mauro Giacomelli, PhD, Rajesh.

Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions  Mauro Giacomelli, PhD, Rajesh.
Differences in human gingival and dermal fibroblasts may contribute to oral-induced tolerance against nickel  Lina Gölz, MD, Elisa Vestewig, Moritz Blankart,

Differences in human gingival and dermal fibroblasts may contribute to oral-induced tolerance against nickel  Lina Gölz, MD, Elisa Vestewig, Moritz Blankart,
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,
Diagnosing IgE-mediated hypersensitivity to sesame by an immediate-reading “contact test” with sesame oil  Cristiana Alonzi, MD, Paolo Campi, MD, Francesco.

Diagnosing IgE-mediated hypersensitivity to sesame by an immediate-reading “contact test” with sesame oil  Cristiana Alonzi, MD, Paolo Campi, MD, Francesco.
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?

Similar presentations

Ads by Google