Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells Troy R. Torgerson, MD,

Slides:

Advertisements

Similar presentations

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.

Advertisements

D-dimer: A biomarker for antihistamine-resistant chronic urticaria

What drives prescription patterns in pediatric asthma management?

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency Abdullah Alangari, MD,

Doina M. Racila, MD, Joel N. Kline, MD, MSc

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,

Fatty acids, inflammation, and asthma

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,

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

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,

Obstructive sleep apnea syndrome and inflammation

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD

Ann-Marie M. Schoos, MD, PhD, Jacob D

Immunologic defects in 22q11.2 deletion syndrome

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation Eleonora.

Alefacept (lymphocyte function-associated molecule 3/IgG fusion protein) treatment for atopic eczema Dagmar Simon, MD, Jennifer Wittwer, MD, Ganna Kostylina,

Dennis K. Ledford, MD, Sally Wenzel, MD

David A. Khan, MD Journal of Allergy and Clinical Immunology

Is 9 more than 2 also in allergic airway inflammation?

Suzana Radulovic, MD, Mikila R. Jacobson, PhD, Stephen R

Fatty acids, inflammation, and asthma

Pathergy response to skin prick testing

Natural regulatory T cells in isolated early responders compared with dual responders with allergic asthma Takashi Kinoshita, MD, Adrian Baatjes, MSc,

Rising prevalence of asthma is sex-specific in a US farming population

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis Lena.

CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Kelli R. Ryan, PhD, Catherine.

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

Polyethylene glycol–modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency Raz Somech, MD,

The Wiskott-Aldrich syndrome

CD4+CD25+FOXP3+ malignant T cells in Sézary syndrome are not necessarily functional regulatory T cells David A. Wada, MD, Mark R. Pittelkow, MD, Nneka.

The National Biome Initiative: An allergy perspective

Clinical characteristics and genotype-phenotype correlations in C3 deficiency Yuka Okura, MD, PhD, Ichiro Kobayashi, MD, PhD, Masafumi Yamada, MD, PhD,

Chris M. Bacon, PhD, Sarah J. Wilkinson, MRes, Gavin P

Profiling of human CD4+ T-cell subsets identifies the TH2-specific noncoding RNA GATA3-AS1 Huan Zhang, MD, PhD, Colm E. Nestor, PhD, Shuli Zhao, PhD,

Benjamin T. Prince, MD, Msci, Ashley L. Devonshire, MD, MPH, Kristin A

Possible role of TH17 cells in the pathogenesis of Stevens-Johnson syndrome and toxic epidermal necrolysis Yuichi Teraki, MD, Misaki Kawabe, MD, Seiichi.

Time for a paradigm shift in asthma treatment: From relieving bronchospasm to controlling systemic inflammation Leif Bjermer, MD Journal of Allergy.

Celiac disease Journal of Allergy and Clinical Immunology

Food allergy: A review and update on epidemiology, pathogenesis, diagnosis, prevention, and management Scott H. Sicherer, MD, Hugh A. Sampson, MD Journal.

Oral administration of a synthetic agonist of Toll-like receptor 9 potently modulates peanut-induced allergy in mice Fu-Gang Zhu, PhD, Ekambar R. Kandimalla,

What is an “eosinophilic phenotype” of asthma?

Weiguo Chen, PhD, Gurjit K. Khurana Hershey, MD, PhD

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency Abdullah Alangari, MD,

Autophagy: Nobel Prize 2016 and allergy and asthma research

Advances in the approach to the patient with food allergy

Primary immunodeficiency disorder caused by phosphoinositide 3–kinase δ deficiency Georgios Sogkas, MD, PhD, Mykola Fedchenko, MD, Akshay Dhingra, MSc,

One step forward, 2 steps back: The enigma of preschool wheeze

The Editors' Choice Journal of Allergy and Clinical Immunology

Regulatory T-cell deficiency and autoimmune skin disease: Beyond the scurfy mouse and immune dysregulation, polyendocrinopathy, enteropathy, X-linked.

Benjamin Chaigne, MD, Hervé Watier, MD, PhD

Serum 25-dihydroxyvitamin D levels correlate with CD4+Foxp3+ T-cell numbers in moderate/severe asthma Emma S. Chambers, MSc, Alexandra M. Nanzer, MRCP,

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

TH9 immunodeficiency in patients with hyper-IgE syndrome

Wasp venom immunotherapy expands a subpopulation of CD4+CD25+ forkhead box protein 3–positive regulatory T cells expressing the T-cell receptor Vβ2 and.

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita Eric J. Allenspach, MD, PhD, Cristian Bellodi, PhD, David Jeong,

Eyal Grunebaum, MD, Ernest Cutz, MD, Chaim M. Roifman, MD

Forkhead box protein 3 (FOXP3) hypermethylation is associated with diesel exhaust exposure and risk for childhood asthma Kelly J. Brunst, PhD, Yuet-Kin.

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

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent.

Immune pathomechanism of drug hypersensitivity reactions

Asthma: The past, future, environment, and costs

Interrupting IL-6–receptor signaling improves atopic dermatitis but associates with bacterial superinfection Alexander A. Navarini, MD, PhD, Lars E.

Dendritic cells in nasal mucosa of subjects with different allergic sensitizations Susanne M. Reinartz, MD, Joost van Tongeren, MD, Danielle van Egmond,

The use of serum-specific IgE measurements for the diagnosis of peanut, tree nut, and seed allergy Jennifer M. Maloney, MD, Magnus Rudengren, BSc, Staffan.

Tertiary lymphoid neogenesis is a component of pulmonary lymphoid hyperplasia in patients with common variable immunodeficiency Paul J. Maglione, MD,

Safety and efficacy of repeated monthly carboplatin desensitization

Transcription factors in allergic diseases

Natural history of cow’s milk allergy

Primary prevention of asthma and allergy

Chitinases and chitinase-like proteins in TH2 inflammation and asthma

Presentation transcript:

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells Troy R. Torgerson, MD, PhD, Hans D. Ochs, MD Journal of Allergy and Clinical Immunology Volume 120, Issue 4, Pages 744-750 (October 2007) DOI: 10.1016/j.jaci.2007.08.044 Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Bowel and pancreas pathology in IPEX. Hematoxylin and eosin stains of small bowel (A) and pancreas (B) from a patient with IPEX syndrome. Note the complete villous atrophy of the bowel mucosa (arrow) as well as marked lymphocytic infiltrate in the intestinal wall. Note the lack of pancreatic islets, diffuse fibrosis, and marked lymphocytic infiltrates in the pancreas (shown at higher magnification in the inset). Journal of Allergy and Clinical Immunology 2007 120, 744-750DOI: (10.1016/j.jaci.2007.08.044) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 CD4+CD25+FOXP3+ cells in IPEX. Flow cytometry demonstrating the population of CD25+FOXP3+ Tregs, which make up 5% to 7% of the CD4+ cell population in normal individuals (left). A decreased percentage of FOXP3+ Treg is sometimes observed in patients with a milder IPEX phenotype and point mutations of FOXP3 (center). Most patients with IPEX have a markedly decreased percentage of FOXP3+ Treg (right). The heading indicates the specific mutation present in the patient. Journal of Allergy and Clinical Immunology 2007 120, 744-750DOI: (10.1016/j.jaci.2007.08.044) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Domain structure of the FOXP3 protein showing the location of mutations identified in patients with IPEX. The size and location of the 4 characterized functional domains of the FOXP3 protein are shown. The ruler represents the amino acid number (1-431), and each hash mark represents 10 amino acids. The approximate locations of mutations identified in patients with IPEX are shown (O = missense point mutations, ▾= deletion/frameshift mutations, □ = splicing mutations)7,8,10,13,14,78-81 (T. Torgerson and H. Ochs, unpublished data, September 2007). ZnF, Zink finger; FKH, forkhead. Journal of Allergy and Clinical Immunology 2007 120, 744-750DOI: (10.1016/j.jaci.2007.08.044) Copyright © 2007 American Academy of Allergy, Asthma & Immunology Terms and Conditions