Acquired cold urticaria vs. Autoinflammatory diseases, genetic and clinical profile and differential diagnosis : Study of a cohort of patients in a tertiary reference centre
Deza, Gustavo (Institut Hospital del Mar d'Investigacions Mèdiques)
Mensa-Vilaro, Anna (Hospital Clínic i Provincial de Barcelona)
March-Rodriguez, Alvaro (Institut Hospital del Mar d'Investigacions Mèdiques)
Sánchez, Silvia (Institut Hospital del Mar d'Investigacions Mèdiques)
Pujol Vallverdú, Ramón M (Institut Hospital del Mar d'Investigacions Mèdiques)
Aróstegui, Juan Ignacio (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Giménez-Arnau, Ana M 1961- (Universitat Autònoma de Barcelona. Departament de Medicina)

Date:	2019
Abstract:	Acquired cold urticaria (ACU) is characterized by the development of itchy wheals after cold exposure. Generalized urticarial skin rashes triggered by cold exposure characterize certain monogenic autoinflammatory diseases (AIDs). The objective of this study is to investigate the presence of variants in genes causing AIDs that present with cold-induced urticarial skin rashes in patients clinically diagnosed with ACU, in order to look for susceptibility factors for the disease. Fifty patients with primary ACU were studied. Germline and post-zygotic variants on the NLRP3, NLRP12, NLRC4 and PLCG2 genes were investigated using nextgeneration sequencing technology. Seven patients (14%) carried 8 heterozygous germline variants in the following genes: NLRP3 (n = 1), NLRP12 (n = 3), NLRC4 (n = 1), PLCG2 (n = 3). No pathogenic or likely pathogenic variants were detected, and deep analyses of the sequences obtained did not identify any post-zygotic variant. In conclusion, ACU is not related to post-zygotic or germline pathogenic variants in the NLRP3, NLRP12, NLRC4 and PLCG2 genes.
Grants:	Instituto de Salud Carlos III PI17-00198 Ministerio de Economía y Competitividad SAF2015-68472-C2-1-R Instituto de Salud Carlos III AC15-00027
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Autoinflammatory diseases ; Cold urticaria ; Genetic variant ; Urticaria ; Urticarial skin rash
Published in:	Acta dermato-venereologica, Vol. 99 Núm. 12 (november 2019) , p. 1071-1077, ISSN 1651-2057

DOI: 10.2340/00015555-3292
PMID: 31408184

7 p, 479.5 KB

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