Marmara University, Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey; The Isil Berat Barlan Center for Translational Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey.
Trakya University, Faculty of Medicine, Pediatric Allergy and Immunology, Edirne, Turkey.
Clin Immunol. 2021 Feb;223:108645. doi: 10.1016/j.clim.2020.108645. Epub 2020 Dec 7.
Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD. Recurrent upper respiratory tract infection and pneumonia were significantly frequent in HIES than SAD patients. Characteristic facial appearance, retained primary teeth, skin abscess, newborn rash, and pneumatocele were more predictable for STAT3-HIES, while mucocutaneous candidiasis and Herpes infection were common in DOCK8 deficiency, which were unusual in SAD group. DOCK8-deficient patients had lower CD3 and CD4T cells with a senescent phenotype that unique for this form of HIES. Both DOCK8 deficiency and STAT3-HIES patients exhibited reduced switched memory B cells compared to the SAD patients. These clinical and laboratory markers are helpful to differentiate HIES from SAD patients.
高免疫球蛋白 E 综合征（HIES）患者可能与严重特应性皮炎（SAD）患者存在许多共同特征，这给医生的诊断带来了困难。确定区分这两种疾病的临床和实验室标志物，可以为早期诊断和治疗提供依据。我们分析了具有早发性 SAD 的患者（DOCK8 缺陷：14 例，STAT3-HIES：10 例，SAD：10 例）。HIES 患者比 SAD 患者更频繁地出现复发性上呼吸道感染和肺炎。特征性的面部外观、乳牙滞留、皮肤脓肿、新生儿皮疹和肺大疱更有助于 STAT3-HIES 的预测，而黏膜皮肤念珠菌病和疱疹感染在 DOCK8 缺陷患者中很常见，但在 SAD 组中并不常见。DOCK8 缺陷患者的 CD3 和 CD4T 细胞数量较低，且具有衰老表型，这是这种形式的 HIES 的独特特征。与 SAD 患者相比，DOCK8 缺陷和 STAT3-HIES 患者的转换记忆 B 细胞数量减少。这些临床和实验室标志物有助于区分 HIES 和 SAD 患者。
