Valenzise Mariella, Foti Randazzese Simone, Toscano Fabio, Lombardo Fortunato, Salzano Giuseppina, Pajno Cristina, Wasniewska Malgorzata, Cascio Antonio, Su Maureen A
Department of Human Pathology of Adulthood and Childhood, University of Messina, 98121 Messina, Italy.
Department Maternal and Child Health, Urological Sciences-Sapienza University, 00161 Rome, Italy.
Pathogens. 2023 Mar 2;12(3):403. doi: 10.3390/pathogens12030403.
Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), caused by mutations in the Autoimmune Regulator (AIRE) gene, is an autosomal recessive multi-organ autoimmunity syndrome usually defined by high serum titers of type I Interferon Autoantibodies (Type 1 IFN-Abs). These antibodies have recently been found in individuals in the general population who develop life-threatening Coronavirus Disease 2019 (COVID-19), but the significance of pre-existing Type 1 IFN-Abs in APECED patients with COVID-19 remains unclear. Previous reports of COVID-19 outcomes in APECED patients have been divergent, and protective roles have been proposed for female sex, age <26 years, and immunomodulatory medications including intravenous immunoglobulin (IVIg). We report the case of a 30-year-old male APECED patient who experienced a Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with mild symptoms of fatigue and headache without respiratory distress and did not require hospitalization. He received a stress dose of hydrocortisone for adrenal insufficiency and continued on his baseline medications, including subcutaneous administration of Immunoglobulins (SCIgs) for chronic inflammatory demyelinating polyneuropathy (CIDP). Mild COVID-19 in a 30-year-old male patient with APECED and pre-existing Type 1 IFN-Abs was unexpected. Younger age and management of autoimmunity may have played a role.
自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED）由自身免疫调节因子（AIRE）基因突变引起，是一种常染色体隐性多器官自身免疫综合征，通常由高血清滴度的I型干扰素自身抗体（1型IFN-Abs）定义。最近在普通人群中感染危及生命的2019冠状病毒病（COVID-19）的个体中发现了这些抗体，但在患有COVID-19的APECED患者中预先存在的1型IFN-Abs的意义仍不清楚。先前关于APECED患者COVID-19结局的报道存在分歧，并且提出女性、年龄<26岁以及包括静脉注射免疫球蛋白（IVIg）在内的免疫调节药物具有保护作用。我们报告了一例30岁男性APECED患者的病例，该患者感染了严重急性呼吸综合征冠状病毒2（SARS-CoV-2），出现疲劳和头痛等轻微症状，无呼吸窘迫，无需住院治疗。他因肾上腺功能不全接受了应激剂量的氢化可的松治疗，并继续服用其基线药物，包括皮下注射免疫球蛋白（SCIgs）治疗慢性炎症性脱髓鞘性多发性神经病（CIDP）。一名患有APECED且预先存在1型IFN-Abs的30岁男性患者出现轻度COVID-19情况出乎意料。年龄较小和自身免疫的管理可能起到了一定作用。
