中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (3): 152-157.doi: 10.12144/zgmfskin202603152

• 论著 • 上一篇    下一篇

CARD11基因变异相关特应性皮炎一例

夏璞1,2,莫然1,2,陈志明1,2,杨勇1,2   

  1. 1北京协和医学院 中国医学科学院 皮肤病医院 皮肤病研究所，江苏南京，210042；2中国医学科学院、北京协和医学院皮肤病医院，江苏省皮肤医学重点实验室，遗传病中心，江苏南京，210042
  • 出版日期:2026-03-15 发布日期:2026-03-09

A case of atopic dermatitis associated with CARD11 variant

XIA Pu1,2, MO Ran1,2, CHEN Zhiming1,2, YANG Yong1,2   

  1. 1 Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing 210042, China; 2 Genetic Skin Disease Center, Jiangsu Provincial Key Laboratory of Dermatology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing 210042, China
  • Online:2026-03-15 Published:2026-03-09

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摘要： 目的：报道表现为泛发性毛囊角化性丘疹伴慢性瘙痒的特应性皮炎患者一例，明确其可能的致病基因。方法：收集临床资料，提取先证者及其父母外周血DNA，进行目标基因外显子组测序，并通过Sanger测序验证，结合变异类型、人群数据库、有害性预测结果和既往文献评估其致病性。结果：先证者，男，13岁，全身泛发性毛囊角化性丘疹、干燥伴瘙痒10年。患者外周嗜酸性粒细胞及IgE水平升高，外院筛查过敏原示麦麸过敏，有过敏性鼻炎、面食过敏史。家族中无类似疾病。检测到患儿CARD11基因存在c.89G＞A（p.Arg30Gln）杂合变异，经Sanger测序验证共分离后提示为自发变异。患儿父母未检测到CARD11基因突变。结论：本研究报道了一例以泛发性毛囊丘疹为临床特征的特应性皮炎患者，丰富了CARD11变异的临床表型谱。

关键词: CARD11基因, 特应性皮炎, 原发性免疫缺陷

Abstract: Objective: To report a case of atopic dermatitis (AD) presenting with generalized follicular keratotic papules and chronic pruritus, to identify the potential pathogenic gene. Methods: Clinical data of the proband were collected and peripheral blood DNA was obtained from the proband and his parents. Targeted exome sequencing of genes related to hereditary skin disorders was performed, followed by Sanger sequencing validation. The pathogenicity of the variant was evaluated based on variant type, population databases, in silico prediction tools and published evidence. Results: The proband was a 13-year-old male who had suffered from generalized keratotic follicular papules, xerosis and pruritus all over the body for 10 years. His peripheral blood eosinophil count and IgE level were elevated; allergen screening in another hospital indicated wheat bran allergy, and he had a history of allergic rhinitis and wheat flour allergy, with no similar diseases reported in his family. A heterozygous c.89G＞A (p.Arg30Gln) variant in the CARD11 gene was detected in the proband, and confirmed as a de novo variant by Sanger sequencing and segregation analysis. Conclusion: This study reports a case of atopic dermatitis clinically featured by generalized keratotic follicular papules, which enriches the clinical phenotypic spectrum of CARD11 variants.

Key words: CARD11 gene, atopic dermatitis, primary immunodeficiency