We have read with interest the article by Aeschlimann1 and colleagues about clinical phenotypes and disease course of 16 American patients with A20 haploinsufficiency (HA20). We would like to share our experience of a French family of three new related patients with juvenile onset Behcet’s disease associated with HA20 (figure 1). Figure 1 Pedigree of a French family diagnosed with HA20. The arrow indicates the proband. Filled in blue symbols indicate subjects carrying a p.Glu332* mutation in TNFAIP3 . Men are indicated by squares, and women are indicated by circles. P1, a 48-year-old woman, was the first patient to be diagnosed with HA20 in July 2017 in our unit. She carries the heterozygous loss of function c.[994G>T] p.Glu332* truncating mutation, …

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回应：“A20 单倍体不足（HA20）：新发现的 NF-kB 介导的自身炎症性疾病患者的临床表型和病程”

我们饶有兴趣地阅读了 Aeschlimann1 及其同事关于 16 名美国 A20 单倍体不足 (HA20) 患者的临床表型和病程的文章。我们想分享一个法国家庭的经验，该家庭的三个新的相关患者患有与 HA20 相关的青少年白塞氏病（图 1）。图 1 诊断为 HA20 的法国家庭的谱系。箭头表示先证者。填充蓝色符号表示受试者在 TNFAIP3 中携带 p.Glu332* 突变。男人用正方形表示，女人用圆圈表示。P1，一名48岁的女性，是2017年7月我们病房首例确诊为HA20的患者。她携带功能 c.[994G>T] p.Glu332* 截断突变的杂合子缺失，……