Lehman Heather
Division of Allergy, Immunology and Pediatric Rheumatology, Department of Pediatrics, Women and Children's Hospital of Buffalo, SUNY Buffalo, School of Medicine and Biomedical Sciences, 219 Bryant Street, Buffalo, NY, 14222, USA,
Clin Rev Allergy Immunol. 2014 Apr;46(2):112-9. doi: 10.1007/s12016-013-8377-8.
Cutaneous manifestations are common in primary immune deficiency diseases, affecting between 40 % and 70 % of patients with diagnosed primary immune deficiency. Skin infections characterize many primary immune deficiencies, but there are also frequent noninfectious cutaneous manifestations seen in many of these disorders, including eczematous lesions, erythroderma, cutaneous granulomas, dysplasia of skin, hair, and nails, autoimmune conditions, and frank vasculitis. For the patient with suspected primary immunodeficiency, much can be inferred by evaluating the presenting cutaneous findings, including various infectious susceptibilities, presence of atopy, and evidence of impaired or overactive inflammatory response. The skin manifestations of primary immune deficiency diseases are often early or heralding findings of the underlying immunologic disease. Therefore, awareness of associations between skin findings and immune deficiency may aide in the early detection and treatment of serious or life-threatening immunologic defects. This review summarizes the common skin manifestations of primary immune deficiency diseases and provides the reader with a differential diagnosis of primary immune defects to consider for the most common skin manifestations.
皮肤表现常见于原发性免疫缺陷病，在已确诊的原发性免疫缺陷患者中发生率为40%至70%。皮肤感染是许多原发性免疫缺陷的特征，但在许多此类疾病中也常见非感染性皮肤表现，包括湿疹样病变、红皮病、皮肤肉芽肿、皮肤、毛发和指甲发育异常、自身免疫性疾病以及明显的血管炎。对于疑似原发性免疫缺陷的患者，通过评估当前的皮肤表现可推断出很多信息，包括各种感染易感性、特应性的存在以及炎症反应受损或过度活跃的证据。原发性免疫缺陷病的皮肤表现往往是潜在免疫疾病的早期或先兆表现。因此，了解皮肤表现与免疫缺陷之间的关联可能有助于早期发现和治疗严重或危及生命的免疫缺陷。本综述总结了原发性免疫缺陷病常见的皮肤表现，并为读者提供了针对最常见皮肤表现需考虑的原发性免疫缺陷鉴别诊断。
