He Yifan, Hui Yun, Liu Haibo, Wu Yifan, Sang Hong, Liu Fang
Department of Dermatology, Jinling Hospital, Nanjing Medical University, Nanjing 210002, China.
Department of Dermatology, Jinling Hospital, Nanjing University, Nanjing 210002, China.
Vaccines (Basel). 2022 Aug 31;10(9):1436. doi: 10.3390/vaccines10091436.
Familial hemophagocytic lymphohistiocytosis (HLH) is a rare genetic and life-threatening immunodeficiency disease. Here, we present a 38-year-old male who initially developed multiple annular to irregular erythema accompanied by a fever after COVID-19 vaccination. He was diagnosed with HLH with evidence of leukocytopenia in a full blood test, elevations of ferritin and sCD25, decreased NK cell function, and hemophagocytosis of a bone marrow biopsy specimen. A genetic examination revealed two probable disease-causing heterozygous mutations on UNC13D associated with type 3 familial HLH. A review of the case reports relevant to HLH following COVID-19 vaccination and the cutaneous manifestations of HLH with genetic defects suggests the necessity that individuals with preexisting immune dysregulation or diseases not classified should be cautious about COVID-19 vaccination and reminds clinicians that various recalcitrant skin lesions may be a sign of HLH.
家族性噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见的、危及生命的遗传性免疫缺陷疾病。在此，我们报告一名38岁男性，他在接种新冠病毒疫苗后最初出现多个环形至不规则红斑并伴有发热。他被诊断为HLH，全血细胞检查有白细胞减少的证据，铁蛋白和可溶性白细胞介素-2受体α（sCD25）升高，自然杀伤（NK）细胞功能降低，骨髓活检标本有噬血细胞现象。基因检查发现UNC13D基因上有两个可能致病的杂合突变，与3型家族性HLH相关。对新冠病毒疫苗接种后HLH相关病例报告以及有基因缺陷的HLH皮肤表现的回顾表明，已有免疫失调或未分类疾病的个体对接种新冠病毒疫苗应谨慎，并提醒临床医生各种顽固性皮肤病变可能是HLH的迹象。
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