Presentation is loading. Please wait.

Presentation is loading. Please wait.

Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome  Jan Loock, MD, Peter Lamprecht, MD,

PublishUnni Helland Modified over 5 years ago

Similar presentations

Presentation on theme: "Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome  Jan Loock, MD, Peter Lamprecht, MD,"— Presentation transcript:

1 Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome  Jan Loock, MD, Peter Lamprecht, MD, Christian Timmann, MD, Ulrich Mrowietz, MD, Elena Csernok, PhD, Wolfgang L. Gross, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 125, Issue 2, Pages (February 2010) DOI: /j.jaci Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Genomic organisation of the NLRP3 gene and a DNA-sequencing electropherogram demonstrating the G592A exchange. NLRP3 is made up of exons 1 to 9 between the 5′ untranslated region (UTR) and the 3′ UTR ( Exons 3 and 4 were amplified and sequenced bidirectionally as described.4 The electropherogram showed heterozygosity at position G592A (arrows) of the patient. The G to A exchange causes a valine-to-methionine substitution (V198M). Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Pedigree of the patient's family. Boxes represent males; circles, females; open shapes, healthy individuals; filled shape, patient with Schnitzler syndrome; shapes with slashes, deceased individuals. V198M/wt, Heterozygous carriers of the V198M NLRP3 mutation; wt/wt, individuals without mutations within exons 3 and 4 of the NLRP3 gene. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Download ppt "Genetic predisposition (NLRP3 V198M mutation) for IL-1–mediated inflammation in a patient with Schnitzler syndrome  Jan Loock, MD, Peter Lamprecht, MD,"

Similar presentations

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

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.
D-dimer: A biomarker for antihistamine-resistant chronic urticaria

D-dimer: A biomarker for antihistamine-resistant chronic urticaria
Peter Vadas, MD, PhD, Boris Perelman, PhD, Gary Liss, MD, MS 

Peter Vadas, MD, PhD, Boris Perelman, PhD, Gary Liss, MD, MS 
What drives prescription patterns in pediatric asthma management?

What drives prescription patterns in pediatric asthma management?
“Inflammatory skin march”: IL-1–mediated skin inflammation, atopic dermatitis, and psoriasis to cardiovascular events  Keiichi Yamanaka, MD, PhD, Hitoshi.

“Inflammatory skin march”: IL-1–mediated skin inflammation, atopic dermatitis, and psoriasis to cardiovascular events  Keiichi Yamanaka, MD, PhD, Hitoshi.
Alveolar nitric oxide and asthma control in mild untreated asthma

Alveolar nitric oxide and asthma control in mild untreated asthma
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,
Alexandra Kazaks, MA, RD, Janet Y. Uriu-Adams, PhD, Judith S

Alexandra Kazaks, MA, RD, Janet Y. Uriu-Adams, PhD, Judith S
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)  Benedikt D. Spielberger, Cristina.

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

Fatty acids, inflammation, and asthma
Sunita Sharma, MD, MPH, Augusto Litonjua, MD, MPH 

Sunita Sharma, MD, MPH, Augusto Litonjua, MD, MPH 
Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 
Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome  Heleen D. de Koning, MD, Mariëlle E. van.

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome  Heleen D. de Koning, MD, Mariëlle E. van.
Complete remission in 3 of 3 anti-IL-6–treated patients with Schnitzler syndrome  Karoline Krause, MD, Eugen Feist, MD, Michael Fiene, MD, Tilmann Kallinich,

Complete remission in 3 of 3 anti-IL-6–treated patients with Schnitzler syndrome  Karoline Krause, MD, Eugen Feist, MD, Michael Fiene, MD, Tilmann Kallinich,
Dennis K. Ledford, MD, Sally Wenzel, MD 

Dennis K. Ledford, MD, Sally Wenzel, MD 
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?
Desensitization to Chemotherapeutic Agents

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.

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

Fatty acids, inflammation, and asthma
Heleen D. de Koning, MD, Joost Schalkwijk, PhD, Jos W. M

Heleen D. de Koning, MD, Joost Schalkwijk, PhD, Jos W. M

Similar presentations

Ads by Google