Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.

Tessarin, G; Baronio, M; Gazzurelli, L; Rossi, S; Chiarini, M; Moratto, D; Badolato, R; Lougaris, V

Tessarin, G; Baronio, M; Gazzurelli, L; Rossi, S; Chiarini, M; Moratto, D; Badolato, R; Lougaris, V.

Afiliação

Tessarin G; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Baronio M; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Gazzurelli L; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Rossi S; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Chiarini M; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.
Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.
Badolato R; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine ´A. Nocivelli´, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.

J Investig Allergol Clin Immunol ; 33(6): 488-490, 2023 Dec 14.

Article em En | MEDLINE | ID: mdl-36748365

Assuntos

Imunodeficiência de Variável Comum; Linfangiectasia Intestinal; Linfedema; Criança; Humanos; Linfangiectasia Intestinal/genética; Linfedema/genética; Mutação; Proteínas de Ligação ao Cálcio/genética; Proteínas Supressoras de Tumor/genética; Proteínas Supressoras de Tumor/metabolismo

Palavras-chave

CCBE1; CVID-like; HKLLS; Hennekam syndrome; Lymphedema

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunodeficiência de Variável Comum / Linfangiectasia Intestinal / Linfedema Limite: Child / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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