Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.

Louvrier, Camille; Awad, Fawaz; Amselem, Serge; Lipsker, Dan; Giurgea, Irina

Louvrier, Camille; Awad, Fawaz; Amselem, Serge; Lipsker, Dan; Giurgea, Irina.

Afiliação

Louvrier C; Sorbonne Université, Inserm, Childhood Genetic Disorders and Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Armand-Trousseau, Paris, France.
Awad F; Sorbonne Université, Inserm, Childhood Genetic Disorders and Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Armand-Trousseau, Paris, France.
Amselem S; Sorbonne Université, Inserm, Childhood Genetic Disorders and Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Armand-Trousseau, Paris, France.
Lipsker D; Service de Dermatologie, Hôpitaux Universitaires de Strasbourg, Hôpital Civil, Strasbourg, France.
Giurgea I; Sorbonne Université, Inserm, Childhood Genetic Disorders and Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Armand-Trousseau, Paris, France.

Allergy ; 77(11): 3435-3436, 2022 11.

Article em En | MEDLINE | ID: mdl-35713654

Assuntos

Síndrome de Schnitzler; Humanos; Estudos de Coortes; Mutação; Proteína 3 que Contém Domínio de Pirina da Família NLR/genética; Síndrome de Schnitzler/diagnóstico; Síndrome de Schnitzler/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Schnitzler Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Allergy Ano de publicação: 2022 Tipo de documento: Article

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