Maternal and Children's Hospital ISSEMYM, Toluca, Estado de México, Mexico.
Children's Hospital of Morelia, Morelia, Michoacán, Mexico.
Iran J Allergy Asthma Immunol. 2024 Feb 11;23(1):122-126. doi: 10.18502/ijaai.v23i1.14960.
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.Glu300Glyfs7) pathogenic variant was previously described, whereas the c.863del (p.Pro288Leufs9) variant was novel. ARPC1B deficiency should be considered because of the severe allergic manifestations at an early age.
肌动蛋白相关蛋白 2/3 复合物亚基 1B（ARPC1B）缺陷是一种免疫先天缺陷（IEI），其特征是免疫缺陷和免疫失调的组合，并归类为具有过敏表现的 IEI。在这里，我们描述了两位 ARPC1B 基因变异的患者。第一位患者在六个月大时出现湿疹和支气管痉挛。第二位患者在五个月大时出现湿疹和牛奶蛋白过敏。c.899_944(p.Glu300Glyfs7)致病性变异先前已有描述，而 c.863del(p.Pro288Leufs9)变异则是新发现的。由于早期出现严重的过敏表现，应考虑 ARPC1B 缺陷。
