Department of Rheumatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Front Immunol. 2021 May 19;12:667430. doi: 10.3389/fimmu.2021.667430. eCollection 2021.
Autoinflammatory phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) is a rare autoinflammatory disease caused by gain-of-function mutations in the gene. Here we report a rare case of APLAID patient carrying a novel heterozygous missense I169V mutation with gangrenous pyoderma and concomitant high serum immunoglobulin (Ig) E level.
The patient was diagnosed as APLAID and has been treated in our department. His phenotype and genotype were carefully documented and studied. We also conducted a comprehensive literature review on APLAID.
A 23-year-old Chinese Han man presented with recurrent fever for 18 years and vesiculopustular rashes for 9 years, along with chronic bronchitis, leukocytosis, increased C-reactive protein, immunodeficiency and high serum IgE. Skin biopsy showed chronic inflammatory cells infiltration. A paternal heterozygous missense variant in exon 6 of the gene p. I169V was identified. His vesiculopustular and IgE level responded to medium dose corticosteroids. After withdrawal of steroids, he developed severe arthritis and a large deteriorating ulceration resembling pyoderma gangrenosum on the left knee. Large dose corticosteroids were suboptimal. Then he received adalimumab with satisfactory response for arthritis and skin lesion. But he got an immunodeficiency-associated lymphoproliferative disorder 2 months later. Through literature review, there were a total of 10 APLAID patients reported by six English-language publications. Vesiculopustular rashes, sinopulmonary infection and immunodeficiency were the most frequent symptoms of APLAID patients. Glucocorticoids, intravenous immunoglobulin and biologics were clinically used to treat APLAID but none of these patients had a complete recovery.
The rarity and diversity of APLAID make it difficult to be diagnosed. Our study reported the first case of APLAID with gangrenous pyoderma and concomitant high IgE carrying a novel mutation, which may expand the clinical phenotype and genotype of APLAID.
自身炎症性磷脂酶 Cγ2（PLCγ2）相关抗体缺陷和免疫失调（APLAID）是一种由 PLCγ2 基因获得性功能突变引起的罕见自身炎症性疾病。本文报告了一例携带新型杂合错义突变 I169V 的 APLAID 患者，该患者表现为坏疽性脓皮病和同时伴有高血清免疫球蛋白（Ig）E 水平。
该患者被诊断为 APLAID，并在我科接受治疗。详细记录和研究了他的表型和基因型。我们还对 APLAID 进行了全面的文献复习。
一名 23 岁的汉族男性，表现为反复发热 18 年，水疱脓疱性皮疹 9 年，伴有慢性支气管炎、白细胞增多、C 反应蛋白升高、免疫缺陷和高血清 IgE。皮肤活检显示慢性炎症细胞浸润。在 基因第 6 外显子中发现了一个来自父亲的杂合错义变异 p.I169V。他的水疱脓疱和 IgE 水平对中剂量皮质类固醇有反应。停用类固醇后，他出现严重关节炎，左膝出现类似坏疽性脓皮病的大而恶化的溃疡。大剂量皮质类固醇效果不佳。然后他接受了阿达木单抗治疗，关节炎和皮肤病变均有满意的反应。但 2 个月后他出现了免疫缺陷相关的淋巴增生性疾病。通过文献复习，共有 6 篇英文文献报道了 10 例 APLAID 患者。水疱脓疱性皮疹、鼻肺感染和免疫缺陷是 APLAID 患者最常见的症状。皮质类固醇、静脉注射免疫球蛋白和生物制剂临床上用于治疗 APLAID，但这些患者均未完全康复。
APLAID 的罕见性和多样性使其难以诊断。我们的研究报告了首例携带新型 突变的伴有坏疽性脓皮病和高 IgE 的 APLAID 病例，可能扩展了 APLAID 的临床表型和基因型。
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