未经证实:据报道,一名3岁零6个月大的儿童反复发高烧,伴有全身淋巴结肿大和炎症标志物如C反应蛋白和降钙素原显著升高。稍后,全外显子组测序确定该儿童的疾病为A20单倍体功能不全(HA20)。
未经批准:免疫抑制治疗后,孩子的症状明显改善,炎症标志物降到正常范围.
UASSIGNED:由于HA20的特点,这种疾病在临床上经常被低估和误诊。通过报告这个孩子的HA20病例,我们希望在临床上提高对这种疾病的认识。
UNASSIGNED: A 3-year-and-6-month-old child was reported to have recurrent high fever with generalized lymph node enlargement and significant elevation of inflammatory markers such as C-reactive protein and procalcitonin in tests. Later, whole exome sequencing determined that the child\'s disease was haploinsufficiency of A20 (HA20).
UNASSIGNED: After immunosuppressive therapy, the child\'s symptoms improved significantly, and the inflammatory markers dropped to the normal range.
UNASSIGNED: Because of the characteristics of HA20, this disease is often underdiagnosed and misdiagnosed in clinical practice. By reporting this
case of HA20 in a child, we hope to increase the awareness of this disease in the clinic.