A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation Alberto López-Lera, MS, Bertrand.

Slides:

Advertisements

Similar presentations

Early exposure to cow's milk protein is protective against IgE-mediated cow's milk protein allergy Yitzhak Katz, MD, Nelly Rajuan, MSc, Michael R. Goldberg,

Advertisements

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

Defective B-cell memory in patients with Down syndrome Ruud H.J. Verstegen, MD, Gertjan J. Driessen, MD, Sophinus J.W. Bartol, BSc, Carel J.M. van Noesel,

Endoplasmic reticulum stress influences bronchial asthma pathogenesis by modulating nuclear factor κB activation So Ri Kim, MD, PhD, Dong Im Kim, MS, Mi.

Treatment of attacks with plasma-derived C1-inhibitor concentrate in pediatric hereditary angioedema patients Henriette Farkas, MD, PhD, DSc, Dorottya.

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

Quoting a landmark paper on the beneficial effects of probiotics

Jessica P. Hollenbach, PhD, Michelle M. Cloutier, MD

Homozygous C1 inhibitor deficiency: The conclusion of a long search

Airway microbiome and responses to corticosteroids in corticosteroid-resistant asthma patients treated with acid suppression medications Elena Goleva,

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

Factor XII–independent cleavage of high-molecular-weight kininogen by prekallikrein and inhibition by C1 inhibitor Kusumam Joseph, PhD, Baby G. Tholanikunnel,

Major rabbit allergen Ory c 3: What could be its possible role as a sensitizing agent in real life? Gennaro Liccardi, MD, Antonello Salzillo, MD, Maria.

Activation of protease-activated receptor 2 leads to impairment of keratinocyte tight junction integrity Peter Nadeau, BS, Mason Henehan, BS, Anna De.

Vemuri B. Reddy, PhD, Thomas A

Is 9 more than 2 also in allergic airway inflammation?

Treatment of attacks with plasma-derived C1-inhibitor concentrate in pediatric hereditary angioedema patients Henriette Farkas, MD, PhD, DSc, Dorottya.

Exosomes from human macrophages and dendritic cells contain enzymes for leukotriene biosynthesis and promote granulocyte migration Julia Esser, BS, Ulf.

Toll-like receptor 9 suppression in plasmacytoid dendritic cells after IgE-dependent activation is mediated by autocrine TNF-α John T. Schroeder, PhD,

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

Katherine A. Vierk, MPH, Kathleen M. Koehler, PhD, MPH, Sara B

Deficiency of plasminogen activator inhibitor 2 in plasma of patients with hereditary angioedema with normal C1 inhibitor levels Kusumam Joseph, PhD,

Physician needs in health informatics: Just ask the docs

Furry pets modulate gut microbiota composition in infants at risk for allergic disease Merja Nermes, MD, PhD, Akihito Endo, PhD, Jasmin Aarnio, BM, Seppo.

A focused parameter update: Hereditary angioedema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor–associated angioedema

First case of homozygous C1 inhibitor deficiency

Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor–dependent innate antiviral immune responses Douglas R. McDonald, MD, PhD,

Hereditary angioedema: Key role for kallikrein and bradykinin in vascular endothelial- cadherin cleavage and edema formation Laurence Bouillet, MD, PhD,

Nonadherence to Asthma Treatment: Getting Unstuck

Corticosteroid-resistant asthma is associated with classical antimicrobial activation of airway macrophages Elena Goleva, PhD, Pia J. Hauk, MD, Clifton.

Peter M. Wolfgram, MD, David B. Allen, MD

William J. Calhoun, MD, Tmirah Haselkorn, PhD, Dave P

Vemuri B. Reddy, PhD, Thomas A

Angioedema and estrogen-dependent angioedema with activation of the contact system François Hentges, MD, Christiane Hilger, PhD, Marianne Kohnen, BSc,

Jewlya Lynn, PhD, Sophie Oppenheimer, MS, MPH, Lorena Zimmer, MA

Debra J. Palmer, PhD, Thomas R. Sullivan, BMa&CompSc(Hons), Michael S

Roles of arginase variants, atopy, and ozone in childhood asthma

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

Emma L. Wise, PhD, Kandace T. Bonner, BSc, Timothy J

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

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.

IgE-mediated anaphylaxis caused by bites of the pigeon tick Argas reflexus: Cloning and expression of the major allergen Arg r 1 Christiane Hilger, PhD,

What is an “eosinophilic phenotype” of asthma?

Characterization of a high TNF-α phenotype in children with moderate-to-severe asthma Sheena D. Brown, PhD, Lou Ann Brown, PhD, Susan Stephenson, PhD,

H. William Kelly, PharmD Journal of Allergy and Clinical Immunology

Autophagy: Nobel Prize 2016 and allergy and asthma research

IL-17E upregulates the expression of proinflammatory cytokines in lung fibroblasts Séverine Létuvé, PhD, Stéphane Lajoie-Kadoch, MSc, Séverine Audusseau,

Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome Hidenori Ohnishi, MD, PhD, Rie Miyata, MD,

Advances in the approach to the patient with food allergy

Rothmund–Thomson Syndrome and Glomerulonephritis in a Homozygous C1q- Deficient Patient Due to a Gly164Ser C1qC Mutation Alberto López-Lera, Juan M. Torres-Canizales,

Geographic variability in childhood asthma prevalence in Chicago

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

Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency Marcel Levi, MD,

Acid-suppressive drug use in pregnancy and the toddler's asthma risk: A crossover, case-control study Bianca Mulder, BSc, Catharina Carolina Maria Schuiling-Veninga,

Metallopeptidase activities in hereditary angioedema: Effect of androgen prophylaxis on plasma aminopeptidase P Christian Drouet, PhD, Anik Désormeaux,

William J. Sheehan, MD, Helen A

Edith Chen, PhD, Madeleine U. Shalowitz, MD, Rachel E

Päivi M. Salo, PhD, Samuel J. Arbes, DDS, MPH, PhD, Patrick W

Macrolide antibiotics and asthma treatment

Asthma: The past, future, environment, and costs

Placental transfer of allergen-specific IgG but not IgE from a specific immunotherapy– treated mother Sabine Flicker, PhD, Katharina Marth, MD, Heinz.

Anick Langlois, MSc, Claudine Ferland, BSc, Guy M

Environmental factors and eosinophilic esophagitis

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 new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation Alberto López-Lera, MS, Bertrand Favier, PhD, Rocío Mena de la Cruz, MS, Sofía Garrido, BS, Christian Drouet, PhD, Margarita López- Trascasa, PhD Journal of Allergy and Clinical Immunology Volume 126, Issue 6, Pages 1307-1310.e3 (December 2010) DOI: 10.1016/j.jaci.2010.07.037 Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Biochemical and functional studies on the R378C mutant: Western blot of fresh plasma samples of the family members showing the native (105 kd) and cleaved/latent (96 kd) forms of C1-Inh. Equal plasma volumes were loaded in each lane. Normal human plasma (NHP) and purified C1-Inh (Berinert P) are shown as reference (A). C1-Inh’s interaction with C1s protease and kallikrein was examined by means of ELISA of Cos-7 cell supernatants (20 ng of protein per lane) and plasma samples (B). Journal of Allergy and Clinical Immunology 2010 126, 1307-1310.e3DOI: (10.1016/j.jaci.2010.07.037) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Complement profile and family tree Complement profile and family tree. The reference values were obtained from a series of healthy donors. The first generation was not available for the study. ND, Not detectable. Journal of Allergy and Clinical Immunology 2010 126, 1307-1310.e3DOI: (10.1016/j.jaci.2010.07.037) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Follow-up of complement profile after treatment with stanozolol Follow-up of complement profile after treatment with stanozolol. C1-Inh levels and function and C4 and C2 levels were markedly increased in plasma of the R378C homozygote after treatment with stanozolol. C1q increased to normal levels only in the second posttreatment sample 28 months after the beginning of stanozolol intake. All the measures are expressed as a percentage of the reference values in each case. Journal of Allergy and Clinical Immunology 2010 126, 1307-1310.e3DOI: (10.1016/j.jaci.2010.07.037) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions