Abstract：
Regulatory T cells (Tregs) are critical for enforcing peripheral tolerance. Monogenic \"Tregopathies\" affecting Treg development, stability, and/or function commonly present with polyautoimmunity, atopic disease, and infection. While autoimmune manifestations may present in early childhood, as more disorders are characterized, conditions with later onset have been identified. Treg numbers in the blood may be decreased in Tregopathies, but this is not always the case, and genetic testing should be pursued when there is high clinical suspicion. Currently, hematopoietic cell transplantation is the only curative treatment, but gene therapies are in development, and small molecule inhibitors/biologics may also be used.
摘要：
调节性T细胞(Tregs)对于实施外周耐受性至关重要。影响Treg发育的单基因“Treg病”，稳定性,和/或功能通常存在于多自身免疫中，特应性疾病,和感染。虽然自身免疫表现可能存在于儿童早期，随着更多疾病的特征，发病较晚的条件已经确定。Treg在Treg病中血液中的数量可能会减少，但情况并非总是如此，当临床高度怀疑时，应进行基因检测。目前,造血细胞移植是唯一的治疗方法,但是基因疗法正在发展中，也可以使用小分子抑制剂/生物制剂。
