Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome
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DOI：
10.1016/j.iac.2008.01.003
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发表时间：
2008-05-01
影响因子：
2.6
通讯作者：
Sullivan, Kathleen E.
中科院分区：
文献类型：
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作者：
Sullivan, Kathleen E.
DiGeorge 综合征或染色体 22q11.2 缺失综合征是一种影响多个器官系统的疾病。免疫学家可能需要根据每位患者的具体需求和独特的临床特征来协调复杂的医疗护理。本文重点讨论免疫系统，但患者需要整体方法。关注婴儿早期的心脏、营养和发育需求非常重要，并且识别需要淋巴细胞或胸腺移植的罕见婴儿也至关重要。后来，言论和学校问题占据了主导地位。过敏和自身免疫性疾病也可能给一些学龄儿童带来困扰。
DiGeorge syndrome, or chromosome 22q11.2 deletion syndrome, is a disorder affecting multiple organ systems. The immunologist may be called on to coordinate complex medical care tailored to the specific needs and unique clinical features of each patient. This article focuses on the immune system, but patients require a holistic approach. Attention to cardiac, nutritional, and developmental needs in early infancy is important, and it is critical to identify the rare infants who require either a lymphocyte or thymus transplant. Later, speech and school issues dominate the picture. Allergies and autoimmune disorders also may be troubling for some school-age children.