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,

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?
The prevalence of Hymenoptera venom allergy in adults: The results of a very crowded city in Euroasia  Aslı Gelincik, Halim İşsever, Derya Unal, Erol.
Anne M. Fitzpatrick, PhD, MSCR, W. Gerald Teague, MD 
Clarification concerning amoxicillin skin testing
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)  Benedikt D. Spielberger, Cristina.
Fatty acids, inflammation, and asthma
Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 
Ann-Marie M. Schoos, MD, PhD, Jacob D
Hypersensitivity reactions due to nitrile gloves
Dorothy M. Ryan, MD, Stephen J. Fowler, MD, Robert M. Niven, MD 
Is 9 more than 2 also in allergic airway inflammation?
Desensitization to Chemotherapeutic Agents
Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation  Karin R. Engelhardt, PhD, Neil.
Fatty acids, inflammation, and asthma
Recurrent anaphylaxis linked to pantoprazole
An Infant with Atopic Dermatitis and Itching After Ingestion of Milk
Rising prevalence of asthma is sex-specific in a US farming population
Lieuwe D. Bos, MSc, PhD, Peter J. Sterk, MD, PhD, Stephen J
Katherine A. Vierk, MPH, Kathleen M. Koehler, PhD, MPH, Sara B
The National Biome Initiative: An allergy perspective
First case of homozygous C1 inhibitor deficiency
Nonadherence to Asthma Treatment: Getting Unstuck
Peter M. Wolfgram, MD, David B. Allen, MD 
Jewlya Lynn, PhD, Sophie Oppenheimer, MS, MPH, Lorena Zimmer, MA 
Reply Journal of Allergy and Clinical Immunology
Respiratory sensitization of a worker to the warehouse beetle Trogoderma variabile: An index case report  Jonathan A. Bernstein, MD, Marjorie S. Morgan,
Time for a paradigm shift in asthma treatment: From relieving bronchospasm to controlling systemic inflammation  Leif Bjermer, MD  Journal of Allergy.
What are the best outcome measurements for atopic eczema
Food allergy: A review and update on epidemiology, pathogenesis, diagnosis, prevention, and management  Scott H. Sicherer, MD, Hugh A. Sampson, MD  Journal.
Biosimilars and drug development in allergic and immunologic diseases
Daphne Koinis-Mitchell, PhD, Timothy Craig, DO, Cynthia A
News Beyond Our Pages Journal of Allergy and Clinical Immunology
A cluster-randomized trial shows telephone peer coaching for parents reduces children's asthma morbidity  Jane M. Garbutt, MB, ChB, Yan Yan, MD, PhD,
Update on the role of prostaglandins in allergic lung inflammation: Separating friends from foes, harder than you might think  Martin L. Moore, PhD, R.
What is an “eosinophilic phenotype” of asthma?
Cephalosporin Side Chain Cross-reactivity
Medication use in children with asthma in Finland from 1995 to 2006
H. William Kelly, PharmD  Journal of Allergy and Clinical Immunology 
Cockroach allergens: Coping with challenging complexity
Autophagy: Nobel Prize 2016 and allergy and asthma research
Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment
Advances in the approach to the patient with food allergy
Association of humoral immunodeficiency, cleidocranial dysplasia, and von Willebrand’s disease in a family cluster  Pramod S. Kelkar, MD, Rosa M. Ten,
Felicia A. Rabito, PhD, Shahed Iqbal, PhD, Michael P
New pathways for itching in patients with atopic dermatitis?
Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome  Jan Loock, MD, Peter Lamprecht, MD,
Cagri Yildirim-Toruner, MD, Betty Diamond, MD 
News Beyond Our Pages Journal of Allergy and Clinical Immunology
One step forward, 2 steps back: The enigma of preschool wheeze
News Beyond Our Pages Journal of Allergy and Clinical Immunology
Benjamin Chaigne, MD, Hervé Watier, MD, PhD 
Martin Brasholt, MD, Florent Baty, PhD, Hans Bisgaard, MD, DMSci 
Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency  Marcel Levi, MD,
Reply Journal of Allergy and Clinical Immunology
Siobhan O. Burns, MD, PhD, Helen L
Advances in basic and clinical immunology in 2013
Measles and immunomodulation
Macrolide antibiotics and asthma treatment
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.
Hymenoptera venom protease allergens
Environmental factors and eosinophilic esophagitis
News Beyond Our Pages Journal of Allergy and Clinical Immunology
News Beyond Our Pages Journal of Allergy and Clinical Immunology
Safety and efficacy of repeated monthly carboplatin desensitization
Natural history of cow’s milk allergy
Primary prevention of asthma and allergy
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema  Valeria Bafunno, PhD, Chiara Divella, PhD, Francesco Sessa,
Presentation transcript:

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, Abdullah Üzümcü, PhD, Ferhan Özşeker, MD, Bahattin Çolakoğlu, MD, Murat Dal, MD, Z. Oya Uyguner, PhD  Journal of Allergy and Clinical Immunology  Volume 123, Issue 4, Pages 962-964 (April 2009) DOI: 10.1016/j.jaci.2008.12.022 Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, Pedigree of the family. Clinically checked individuals are underlined, and the proband is indicated with an arrow. Solid symbols indicate a homozygous subject, and a dot inside a symbol shows a heterozygous subject. B, DNA sequencing chromatograms. C, RT-PCR products on agarose gel. dH2O excludes background. C indicates the control subject. Other lanes are shown by pedigree numbers. Quantified values for C1INH mRNA are listed under the gel photograph. MW, Molecular weight. Journal of Allergy and Clinical Immunology 2009 123, 962-964DOI: (10.1016/j.jaci.2008.12.022) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions