Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocytic lymphohistiocytosis, and progressive neurological problems. The pathophysiological mechanisms underlying this disease are unknown, so developing therapeutic options remains challenging. In this study, four induced pluripotent stem (iPSC) lines from unrelated CHS patients have been generated and successfully characterized for exploring the role of LYST in health and disease in diverse cell types.

Chediak-Higashi综合征（CHS）是一种溶酶体相关细胞器（LRO）疾病，由溶酶体运输调节基因LYST中的双等位基因突变引起。CHS的临床特征包括眼白化病，原发性免疫缺陷，出血性素质，吞噬性淋巴细胞组织细胞增生症的发展风险以及进行性神经系统疾病。该疾病的病理生理机制尚不清楚，因此开发治疗方案仍然具有挑战性。在这项研究中，从无关的CHS患者中产生了四个诱导性多能干（iPSC）系，并成功表征了LYST在多种细胞类型中对健康和疾病的作用。