Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants.

Zaveleta Martínez, Oscar; Fregoso-Zuñiga, Ana Eunice; Razo Requena, Cielo; Espinosa Padilla, Sara; Blancas Galicia, Lzbeth

Zaveleta Martínez, Oscar; Fregoso-Zuñiga, Ana Eunice; Razo Requena, Cielo; Espinosa Padilla, Sara; Blancas Galicia, Lzbeth.

Afiliação

Zaveleta Martínez O; Maternal and Children's Hospital ISSEMYM, Toluca, Estado de México, Mexico. droscarzavaleta@yahoo.com.mx.
Fregoso-Zuñiga AE; Children's Hospital of Morelia, Morelia, Michoacán, Mexico. anefregoso.z@gmail.com.
Razo Requena C; Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico. cie.pao2207@gmail.com.
Espinosa Padilla S; Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico. saraelvaespino@gmail.com.
Blancas Galicia L; Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico. blancas.lizbeth@gmail.com.

Iran J Allergy Asthma Immunol ; 23(1): 122-126, 2024 Feb 11.

Article em En | MEDLINE | ID: mdl-38485907

ABSTRACT

ABSTRACT

Actinrelated protein 2/3 complex subunit 1B (ARPC1B) deficiency is an inborn error of immunity (IEI) characterized by a combination of immunodeficiency and immune dysregulation and classified as an IEI with allergic manifestations. Here, we describe two patients with pathogenic variants in the ARPC1B gene. The first patient presented with eczema and bronchospasm at six months of age. The second patient presented with eczema and milk protein allergy at five months of age. The c.899_944 (p.Glu300Glyfs*7) pathogenic variant was previously described, whereas the c.863del (p.Pro288Leufs*9) variant was novel. ARPC1B deficiency should be considered because of the severe allergic manifestations at an early age.

Assuntos

Eczema; Hipersensibilidade Alimentar; Síndromes de Imunodeficiência; Hipersensibilidade a Leite; Animais; Humanos; Lactente; Complexo 2-3 de Proteínas Relacionadas à Actina/genética; Alérgenos; Eczema/genética; Síndromes de Imunodeficiência/genética; Leite; Hipersensibilidade a Leite/diagnóstico; Hipersensibilidade a Leite/genética

Palavras-chave

ARPC1B protein, human; Bronchial spasm; Eczema; Hypersensitivity; Primary immunodeficiency diseases

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipersensibilidade a Leite / Eczema / Hipersensibilidade Alimentar / Síndromes de Imunodeficiência Limite: Animals / Humans / Infant Idioma: En Revista: Iran J Allergy Asthma Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Irã

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