Abstract：
BACKGROUND: NLRP3-associated autoinflammatory diseases (NLRP3-AID) are rare genetic autoinflammatory diseases characterized by chronic inflammation and an urticaria-like rash. We report an unusual presentation of severe NLRP3-AID resulting in a significant diagnostic delay of more than three decades.
METHODS: The patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained.
CONCLUSIONS: This case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.
METHODS: The patient presented with early-onset serositis as well as prominent peripheral eosinophilia with organ infiltration, in the absence of the classic urticaria-like rash. DNA analysis by next generation sequencing revealed a sporadic class 4 mutation c.1991T > C (p.Met662Thr) in the NLRP3 gene, confirming a diagnosis of NLRP3-AID at 36 years old. Although treatment with anti-interleukin 1 agent led to clinical remission, irreversible sequelae, namely intellectual disability and deafness, remained.
CONCLUSIONS: This case highlights unique manifestations of NLRP3-AID, namely the absence of urticaria-like rash, eosinophilic organ infiltration, and pseudoseptic serositis. In order to avoid diagnostic delay and its dire consequences, NLRP3-AID should be suspected in patients displaying autoinflammatory features combined with serum and tissue eosinophilia and/or marked serositis, regardless of skin involvement.
摘要：
背景：NLRP3相关的自身炎性疾病（NLRP3-AID）是罕见的遗传性自身炎性疾病，其特征是慢性炎症和荨麻疹样皮疹。我们报告了严重的NLRP3-AID的异常表现，导致诊断延迟超过三十年。
方法：患者表现为早发性浆膜炎和突出的周围嗜酸性粒细胞增多伴器官浸润，在没有经典荨麻疹样皮疹的情况下。通过下一代测序进行的DNA分析显示出零星的4类突变c.1991T>C（p。Met662Thr）在NLRP3基因中，在36岁时确认NLRP3-AID的诊断。尽管用抗白细胞介素1药物治疗导致临床缓解，不可逆的后遗症,即智力残疾和耳聋，remains.
结论：该病例突出了NLRP3-AID的独特表现，即没有荨麻疹样皮疹，嗜酸性器官浸润，和假性浆膜炎.为了避免诊断延迟及其可怕的后果，NLRP3-AID应怀疑患者表现出自身炎症特征，并伴有血清和组织嗜酸性粒细胞增多和/或明显的浆膜炎，不管皮肤是否受累。
方法：患者表现为早发性浆膜炎和突出的周围嗜酸性粒细胞增多伴器官浸润，在没有经典荨麻疹样皮疹的情况下。通过下一代测序进行的DNA分析显示出零星的4类突变c.1991T>C（p。Met662Thr）在NLRP3基因中，在36岁时确认NLRP3-AID的诊断。尽管用抗白细胞介素1药物治疗导致临床缓解，不可逆的后遗症,即智力残疾和耳聋，remains.
结论：该病例突出了NLRP3-AID的独特表现，即没有荨麻疹样皮疹，嗜酸性器官浸润，和假性浆膜炎.为了避免诊断延迟及其可怕的后果，NLRP3-AID应怀疑患者表现出自身炎症特征，并伴有血清和组织嗜酸性粒细胞增多和/或明显的浆膜炎，不管皮肤是否受累。
