FOXN1 deficient nude severe combined immunodeficiency.
FOXN1 deficient nude severe combined immunodeficiency.
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DOI：
10.1186/s13023-016-0557-1
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发表时间：
2017-01-11
影响因子：
3.7
通讯作者：
Dhalla F
中科院分区：
文献类型：
--
作者：
Rota IA;Dhalla F
裸重症联合免疫缺陷是一种罕见的遗传性疾病，由FOXN1的常染色体隐性功能缺失突变引起。该基因编码胸腺发育所必需的转录因子，胸腺是支持T细胞发育和选择的主要淋巴器官。迄今为止，已报道了9例胸腺缺失导致严重T细胞免疫缺陷、先天性普秃和指甲营养不良的临床三联征。诊断依赖于FOXN1突变的检测，这允许遗传咨询和指导治疗管理。治疗潜在免疫缺陷的选择包括含有成熟供体T细胞的HLA匹配的基因相同的造血细胞移植或胸腺组织移植。其他严重联合免疫缺陷综合征的经验表明，早期诊断，支持性护理和明确的管理导致更好的患者结果。如果没有这些，由于早发性危及生命的感染，预后很差。
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management. Options for treating the underlying immune deficiency include HLA-matched genoidentical haematopoietic cell transplantation containing mature donor T-cells or thymus tissue transplantation. Experience from other severe combined immune deficiency syndromes suggests that early diagnosis, supportive care and definitive management result in better patient outcomes. Without these the prognosis is poor due to early-onset life threatening infections.