Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature
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DOI：
10.1080/08820139.2016.1214962
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发表时间：
2017-01
影响因子：
2.8
通讯作者：
A. Shirkani;Mohammad Shahrooei;G. Azizi;Hassan Rokni-Zadeh;Hassan Abolhassani;S. Farrokhi;G. Frans;X. Bossuyt;A. Aghamohammadi
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文献类型：
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作者：
A. Shirkani;Mohammad Shahrooei;G. Azizi;Hassan Rokni-Zadeh;Hassan Abolhassani;S. Farrokhi;G. Frans;X. Bossuyt;A. Aghamohammadi
摘要ZAP-70缺陷是一种罕见的常染色体隐性形式的联合免疫缺陷病（CID），其特征是外周血中循环CD 8 T细胞选择性缺失，而CD 4 T细胞降低、正常或升高。到目前为止，已经在ZAP-70相关CID患者中确定了ZAP-70基因的14个独特突变。我们报告一个3岁的男孩，有反复细菌感染和自身免疫的病史。初步实验室检查结果显示，总淋巴细胞计数正常，但CD 8和CD 4 T细胞水平低，淋巴细胞增殖反应异常。免疫球蛋白水平正常，但特异性抗体反应受损。全外显子组测序揭示了ZAP-70激酶结构域内的突变。ZAP-70缺乏症应考虑在婴幼儿反复细菌感染，尽管有可触及的淋巴结，一个显着的胸腺阴影，和正常的总淋巴细胞计数。
ABSTRACT ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response. Immunoglobulin levels were normal, but the specific antibody response was impaired. Whole exome sequencing revealed a mutation within the kinase domain of ZAP-70. ZAP-70 deficiency should be considered in infants and young children with recurrent bacterial infections, in spite of having palpable lymph nodes, a notable thymus shadow, and a normal total lymphocyte count.