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

Oscar Zavaleta Martínez; Ana Eunice  Fregoso-Zuñiga; Cielo Razo Requena; Sara Espinosa Padilla; Lizbeth Blancas Galicia

doi:10.18502/ijaai.v23i1.14960

Oscar Zavaleta Martínez Maternal and Children's Hospital ISSEMYM, Toluca, Estado de México, Mexico
Ana Eunice Fregoso-Zuñiga Children's Hospital of Morelia, Morelia, Michoacán, Mexico
Cielo Razo Requena Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico
Sara Espinosa Padilla Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico
Lizbeth Blancas Galicia Immunodeficiencies Laboratory, National Institute of Pediatrics, Mexico City, Mexico

DOI: https://doi.org/10.18502/ijaai.v23i1.14960

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

Abstract

Actinrelated protein 2/3 complex subunit 1B (ARPC1B) deficiency is an inborn errors 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.