含有漆酶结构域 1 (LACC1) 的单基因突变与模仿多关节或全身性幼年特发性关节炎严重病程的临床表现相关。这些疾病的特点是出生后第一年发病较早、家族聚集且炎症活动性高。这些课程大多难以影响，往往会导致后遗症。本文介绍了来自两个家族的四个病例，其中检测到 LACC1 纯合突变 p.T276fs*。这些儿童最初患有多关节或全身性的幼年关节炎。其中两名患者目前正在接受托珠单抗和甲氨蝶呤治疗，一名没有基础治疗的女性患者目前仅接受局部重复关节内类固醇治疗。第四名女性患者因急性淋巴白血病复发而接受了同种异体骨髓移植。从那时起，没有出现进一步的炎症症状。所提供的案例与迄今为止发布的其他 50 门课程进行了比较。此外，还总结了最近研究 LACC1 突变的影响，特别是对巨噬细胞功能的影响。© 2023。作者获得 Springer Medizin Verlag GmbH（ein Teil von Springer Nature）的独家许可。

Monogenic mutations in laccase domain-containing 1 (LACC1) are associated with clinical pictures that mimic severe courses of polyarticular or systemic juvenile idiopathic arthritis. The diseases are characterized by an early onset during the first year of life, a familial clustering and a high inflammatory activity. The courses are mostly difficult to influence and often lead to sequelae. In this article four cases from two families are presented in which the homozygous mutation p.T276fs* in LACC1 was detected. The children initially suffered from polyarticular or systemic forms of juvenile arthritis. Of the patients two are currently being treated with tocilizumab and methotrexate and one female patient without a basis treatment is currently only receiving local repeated intra-articular steroids. A fourth female patient underwent an allogeneic bone marrow transplantation due to a relapse of an acute lymphatic leukemia. Since then, no further inflammatory symptoms have occurred. The cases presented are compared with the other 50 courses published to date. In addition, recent studies investigating the influence of LACC1 mutations, particularly on macrophage function, are summarized.© 2023. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.