单基因免疫缺陷病与重度特应性皮炎
Monogenic immune disorders and severe atopic disease.
机构信息
Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Department of Experimental Medicine, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
出版信息
Nat Genet. 2017 Jul 27;49(8):1162-1163. doi: 10.1038/ng.3925.
Severe allergic disease is common, and few monogenic causes of atopy have been described. A new study that convincingly links severe atopic dermatitis to heterozygous CARD11 mutations with dominant-interfering activity serves as a timely reminder that clinicians should consider the possibility of an underlying monogenic immune disorder when caring for patients suffering from severe allergic disease.
严重的过敏性疾病很常见，目前仅有少数特应性的单基因病因被描述。一项新的研究令人信服地将严重特应性皮炎与具有显性干扰活性的杂合 CARD11 突变联系起来，这及时提醒临床医生，在照顾患有严重过敏性疾病的患者时，应考虑潜在的单基因免疫紊乱的可能性。
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