Search our Database of Scientific Publications and Authors

I’m looking for a

    Details and Download Full Text PDF:
    Whole Exome Sequencing and Molecular Modeling of a Missense Variant in That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.

    Case Rep Genet 2018 22;2018:6968395. Epub 2018 Feb 22.
    Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.
    Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual's 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of , denoted as c.65G>A (p.R22Q), in all affected members. Variants in have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.
    PDF Download - Full Text Link
    ( Please be advised that this article is hosted on an external website not affiliated with PubFacts.com)
    Source Status
    http://dx.doi.org/10.1155/2018/6968395DOI ListingPossible
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842716PMCFound

    Similar Publications

    Chapter 21: Urticaria and angioedema.
    Allergy Asthma Proc 2012 May-Jun;33 Suppl 1:70-72
    Urticaria, also known as hives, may affect up to 20% of the population at some time in their lives. Urticaria is characterized by extreme pruritus and described as erythematous, raised, circumscribed lesions with central pallor that blanch with pressure. The pathogenesis of urticaria involves mast cell activation, with subsequent release of histamine and other vasoactive mediators, leading to increased vascular permeability of postcapillary venules and development of edema, erythema, and pruritus. Read More
    Urticaria and urticaria related skin condition/disease in children.
    Eur Ann Allergy Clin Immunol 2008 May;40(1):5-13
    Department of Pediatrics, University of Florence, Italy.
    Urticaria is a rash, that typically involves skin and mucosa, and is characterized by lesions known as hives or wheals. In some cases there is an involvement of deep dermis and subcutaneous tissue that causes a skin/mucosa manifestation called angioedema. Urticaria and angioedema are very often associated: urticaria-angioedema syndrome. Read More
    Leukotriene receptor antagonists may prevent NSAID-induced exacerbations in patients with chronic urticaria.
    Ann Allergy Asthma Immunol 2000 Aug;85(2):156-7
    Caduti Bollatesi Hospital, Milan, Italy.
    Background: About 30% of patients with chronic urticaria experience flares of hives and/or angioedema after ingesting either aspirin or nonsteroidal anti-inflammatory drugs. In such patients, cross-reactivity to all NSAIDs seems to occur suggesting a mechanism dependent on cyclooxygenase inhibition.

    Objective: To evaluate the preventive effect of leukotriene receptor antagonists on urticaria exacerbations induced by NSAIDs in a patient with chronic urticaria. Read More
    [Histaminergic angioedema and chronic urticaria].
    Presse Med 2015 Jan 18;44(1):37-42. Epub 2014 Dec 18.
    Hospices civils de Lyon, centre hospitalier Lyon-Sud, service d'allergologie et d'immunologie clinique, 69495 Pierre-Bénite, France; Inserm U1111-CIRI/UMS3444/US8, 21, avenue Tony-Garnier, 69007 Lyon, France; Université Claude-Bernard Lyon I, UFR médecine Lyon-Sud Charles-Mérieux, 69921 Oullins cedex, France. Electronic address:
    Most angioedemas are histaminergic and correspond to deep urticarial swelling. Recurrent histaminergic angioedema led to the diagnosis of chronic urticaria, even when there are no superficial associated hives. Chronic urticaria is a benign disease, and autoimmune in 40 % of cases. Read More