Division of Rheumatology, Allergy & Immunology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, United States.
Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States.
Front Immunol. 2021 Feb 19;12:629457. doi: 10.3389/fimmu.2021.629457. eCollection 2021.
Genetic mutations that result in loss-of-function of the protein A20 result in an early-onset autoinflammatory disease-haploinsufficiency of A20 (HA20). The reported clinical presentations of HA20 include a Behcet's disease-like phenotype and a more lupus-like phenotype. We have identified a novel mutation in the gene encoding A20 in a pediatric patient with chronic lymphadenopathy, lupus-like symptoms, and progressive hypogammaglobulinemia. This case illustrates the wide range of clinical symptoms, including immunodeficiency, that can occur in patients with HA20.
导致 A20 蛋白功能丧失的基因突变导致早发性自身炎症性疾病-A20（HA20）的单倍体不足。HA20 的报道临床表型包括贝切特病样表型和更狼疮样表型。我们在一名患有慢性淋巴结病、狼疮样症状和进行性低丙种球蛋白血症的儿科患者中发现了编码 A20 的基因中的一种新突变。该病例说明了 HA20 患者可能出现的广泛的临床症状，包括免疫缺陷。
