Cowden's syndrome with immunodeficiency.
Cowden's syndrome with immunodeficiency.
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Cowden的综合征具有免疫缺陷。
DOI：
10.1136/jmedgenet-2015-103266
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发表时间：
2015-12
影响因子：
4
通讯作者：
Barwell J
中科院分区：
文献类型：
--
作者：
Browning MJ;Chandra A;Carbonaro V;Okkenhaug K;Barwell J
考登综合征是一种罕见的常染色体显性遗传疾病，由磷酸肌醇3-激酶和磷酸酶和张力蛋白同源物（PTEN）基因突变引起。它与胃肠道的错构瘤性息肉病、粘膜皮肤病变和发展某些类型癌症的风险增加有关。除了增加肿瘤发展的风险外，PTEN的突变也与小鼠和人类的自身免疫有关。然而，迄今为止，仅在单个患者中报告了考登综合征和免疫缺陷之间的关联。对两名患有考登综合症且感染频率增加的患者进行了可能的潜在免疫缺陷调查。在1例患者中，确定了功能性抗体缺乏的低丙种球蛋白血症，而另1例患者持续存在CD 4 + T细胞淋巴细胞减少症（抗体产生正常）。我们的数据表明，考登综合征可能与T细胞和B细胞免疫功能障碍。我们建议对柯登综合征和感染频率增加的患者进行相关免疫缺陷检查。
Cowden’s syndrome is a rare, autosomal dominant disease, caused by mutations in the phosphoinositide 3-kinase and phosphatase and tensin homolog (PTEN) gene. It is associated with hamartomatous polyposis of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing certain types of cancer. In addition to increased risk of tumour development, mutations in PTEN have also been associated with autoimmunity in both mice and humans. To date, however, an association between Cowden’s syndrome and immune deficiency has been reported in a single patient only. Two patients with Cowden’s syndrome and an increased frequency of infections were investigated for possible underlying immunodeficiency. In one patient, hypogammaglobulinaemia with a functional antibody deficiency was identified, whilst the other patient had a persisting CD4+ T cell lymphopenia (with normal antibody production). Our data indicate that Cowden’s syndrome may be associated with both T cell and B cell immune dysfunction. We recommend that patients with Cowden’s syndrome and an increased frequency of infections are investigated for associated immunodeficiency.