Cutaneous manifestations of DOCK8 deficiency syndrome.
Cutaneous manifestations of DOCK8 deficiency syndrome.
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DOI：
10.1001/archdermatol.2011.262
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发表时间：
2012-01
影响因子：
--
通讯作者：
Turner, Maria L. Chanco
中科院分区：
文献类型：
--
作者：
Chu, Emily Y.;Freeman, Alexandra F.;Jing, Huie;Cowen, Edward W.;Davis, Joie;Su, Helen C.;Holland, Steven M.;Turner, Maria L. Chanco
胞质分裂贡献因子8基因（DOCK 8）的突变导致以血清IgE水平升高、IgM水平降低、嗜酸性粒细胞增多、鼻窦炎感染、皮肤病毒感染和淋巴细胞减少为特征的联合原发性免疫缺陷综合征。许多DOCK8缺乏症患者以前被认为患有约伯综合征的变体。仅根据临床结果区分DOCK8缺乏症和Job综合征（也称为常染色体显性高IgE综合征）是具有挑战性的。DOCK8突变的发现使得区分这些高IgE综合征的皮肤表现成为可能。来自14个家族的21例患者，经证实DOCK 8纯合或复合杂合突变进行了评估。临床表现包括皮炎、哮喘、食物和环境过敏、反复性鼻窦炎感染、葡萄球菌皮肤脓肿和严重的皮肤病毒感染。恶性肿瘤，包括侵袭性皮肤T细胞淋巴瘤，肛门和外阴鳞状细胞癌，弥漫性大B细胞淋巴瘤，在青春期和青年期的5例患者。DOCK8缺乏症和约伯综合征共有几个临床特征，包括血清IgE水平升高、皮炎、复发性鼻窦炎感染和皮肤葡萄球菌感染。然而，存在过敏、广泛的皮肤病毒感染、哮喘、食物和环境过敏，以及没有新生儿皮疹和粗糙的面容，有利于DOCK 8缺乏症的临床诊断。DOCK8缺陷患者的恶性肿瘤发生率和总死亡率高于Job综合征患者，这突出了区分这些疾病的价值和密切监测肿瘤的重要性。
Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job’s syndrome. Distinguishing between DOCK8 deficiency and Job’s syndrome, also referred to as autosomal dominant hyper-IgE syndrome, on the basis of clinical findings alone is challenging. The discovery of the DOCK8 mutation has made it possible to differentiate the cutaneous manifestations of these hyper-IgE syndromes. Twenty-one patients from 14 families with confirmed homozygous or compound heterozygous mutations in DOCK8 were evaluated. Clinical findings included dermatitis, asthma, food and environmental allergies, recurrent sinopulmonary infections, staphylococcal skin abscesses, and severe cutaneous viral infections. Malignant neoplasms, including aggressive cutaneous T-cell lymphoma, anal and vulvar squamous cell carcinomas, and diffuse large B-cell lymphoma, developed in 5 patients during adolescence and young adulthood. DOCK8 deficiency and Job’s syndrome share several clinical features, including elevated serum IgE levels, dermatitis, recurrent sinopulmonary infections, and cutaneous staphylococcal abscesses. However, the presence of recalcitrant, widespread cutaneous viral infections, asthma, and food and environmental allergies, as well as the absence of newborn rash and coarse facies, favors the clinical diagnosis of DOCK8 deficiency. Rates of malignancy and overall mortality in patients with DOCK8 deficiency were higher than in those with Job’s syndrome, highlighting the value of distinguishing between these conditions and the importance of close monitoring for neoplasia.
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影响因子：
3.6
作者：
Freeman, Alexandra F.;Holland, Steven M.
通讯作者：
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影响因子：
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作者：
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DOI：
10.1097/aci.0b013e32833fd718
发表时间：
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影响因子：
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通讯作者：
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影响因子：
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作者：
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作者：
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