Clinical and Laboratory Molecular Allergy Unit - IDI - IRCCS, Rome, Italy.
Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Int Arch Allergy Immunol. 2022;183(12):1291-1296. doi: 10.1159/000526409. Epub 2022 Sep 15.
Scant data are currently available on the allergen-specific immunoglobulin (Ig)E sensitization profile in primary immunodeficiencies with hyper IgE. Netherton syndrome (NS, OMIM 266500) is an extremely rare form of congenital ichthyosis characterized by congenital scaly erythroderma, hair abnormalities, and deregulated IgE reactivity associated with severe atopic manifestations.
The aim of this study was to evaluate the feasibility and reliability of a multiplex proteomic approach in the detection of specific IgE in NS.
Specific IgE was evaluated in 10 individuals with an established molecular diagnosis of NS using an allergenic molecules microarray (immuno-solid-phase allergen chip).
Polireactivity to airway allergens, mainly house dust mites and olive tree pollen, and food allergens were observed in NS. Eighty per cent of patients were responsive to LTP or profilins. A clinical history suggestive of severe egg, milk, and fish allergy was confirmed by reactivity to the thermostable molecules Gal d 1, Bod 8, and parvalbumin Gad c 1, respectively. Latex reactivity was associated with Hev b 5 and 6 reactivity. Two distinct clusters of reactivity were observed after hierarchical analysis. Extremely high IgE levels (> 10,000 kU/L) do not affect the results obtained with microarrays.
IgE multiplex evaluation allows (i) to profile IgE polyreactivity pictures, in the presence of LTP and profilin sensitization, (ii) to verify the clinical history of food allergy to milk, egg, and seafood, (iii) to confirm the allergic events associated with latex exposure, and (iv) to disclose the presence of preclinical sensitizations in patients affected by primary immunodeficiencies with hyper IgE, such as the NS.
目前关于高 IgE 原发性免疫缺陷症的过敏原特异性免疫球蛋白 (IgE) 致敏谱的数据很少。 Netherton 综合征 (NS，OMIM 266500) 是一种极其罕见的先天性鱼鳞病，其特征为先天性鳞片状红皮病、毛发异常和 IgE 反应失调，伴有严重的特应性表现。
本研究旨在评估一种多重蛋白质组学方法在 NS 中检测特异性 IgE 的可行性和可靠性。
使用过敏原分子微阵列（免疫固相过敏原芯片）评估 10 名经分子诊断确诊为 NS 的个体的特异性 IgE。
在 NS 中观察到气道过敏原（主要为屋尘螨和橄榄花粉）和食物过敏原的多反应性。80%的患者对 LTP 或丝氨酸蛋白酶抑制剂有反应。对热稳定分子 Gal d 1、Bod 8 和 parvalbumin Gad c 1 的反应证实了对鸡蛋、牛奶和鱼类过敏的严重临床病史。乳胶反应与 Hev b 5 和 6 反应有关。层次分析后观察到两个不同的反应性聚类。极高的 IgE 水平（>10,000 kU/L）不会影响微阵列获得的结果。
IgE 多重评估可 (i) 对 LTP 和丝氨酸蛋白酶抑制剂致敏时的 IgE 多反应性图谱进行分析，(ii) 验证对牛奶、鸡蛋和海鲜的食物过敏的临床病史，(iii) 确认与乳胶暴露相关的过敏事件，以及 (iv) 揭示存在于高 IgE 原发性免疫缺陷症患者中的临床前致敏，如 NS。
