Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
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DOI：
10.1016/j.clim.2008.11.002
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发表时间：
2009-04
期刊：
影响因子：
--
通讯作者：
Puck JM
中科院分区：
文献类型：
--
作者：
Shiow LR;Paris K;Akana MC;Cyster JG;Sorensen RU;Puck JM
引起严重联合免疫缺陷(SCID)的途径包括抗原受体重排、抗原受体和细胞因子信号转导以及嘌呤代谢。认识到肌动蛋白调节因子Cortin-1A对于小鼠模型中正常外周T细胞室的发育是必不可少的，我们在一名患有T-B+NK+SCID的女孩中发现了Cortin-1A的缺失，她在13个月大的时候遭受了反复感染，包括接种后严重的水痘。小鼠冠状病毒-1A是T细胞从胸腺释放所必需的，这与我们的患者胸腺中矛盾地可检测到的一致。分子分析显示，父亲的CORO1A编码序列有2个碱基的缺失，母亲的等位基因上有一个600kb的从头缺失，包括CORO1A。这个位于16p11.2的基因组区域容易受到与自闭症谱系障碍相关的反复拷贝数变化的影响，包括注意缺陷和多动，在我们的患者中存在。这个案例突出了肌动蛋白细胞骨架调节和SCID之间的第一个联系。
Defects causing severe combined immunodeficiency (SCID) have been reported in pathways mediating antigen receptor rearrangement, antigen receptor and cytokine signaling, and purine metabolism. Recognizing that the actin regulator Coronin-1A is essential for development of a normal peripheral T cell compartment in mouse models, we identified absence of Coronin-1A in a girl with T-B+NK+ SCID who suffered recurrent infections including severe post-vaccination varicella at age 13 months. Murine Coronin-1A is essential for release of T cells from the thymus, consistent with the paradoxically detectable thymus in our patient. Molecular analysis revealed a 2 bp deletion in the paternal CORO1A coding sequence paired with a 600kb de novo deletion encompassing CORO1A on the maternal allele. This genomic region at 16p11.2 is subject to recurrent copy number variations associated with autism spectrum disorders, including attention deficit and hyperactivity, present in our patient. This case highlights the first link between actin cytoskeleton regulation and SCID.
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