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单词 ADA deficiency
释义

ADA deficiency

中文百科

腺苷脱氨酶缺乏症 Adenosine deaminase deficiency

(重定向自ADA deficiency)

腺苷脱氨酶缺乏症(ADA缺乏症)是1972年由基布莱特(Giblett)等人发现的一种先天性代谢性异常疾病。此病的病因是腺苷脱氨酶(ADA)缺乏导致核酸代谢产物的异常累积,令T、B淋巴细胞发育不全,功能障碍,引致严重的细胞、体液免疫缺陷。

重度复合免疫缺陷症(SCID)约四分之一的病因是ADA缺乏。

英语百科

Adenosine deaminase deficiency 腺苷脱氨酶缺乏症

(重定向自ADA deficiency)
Adenosine deaminase deficiency has an autosomal recessive pattern of inheritance.

Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID, is an autosomal recessive metabolic disorder that causes immunodeficiency. It occurs in fewer than one in 100,000 live births worldwide.

It accounts for about 15% of all cases of severe combined immunodeficiency (SCID). Only 3% of children are born with this gene.

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更新时间:2025/6/18 21:57:17