Yamazaki-Nakashimada Marco, Zaltzman-Girshevich Samuel, Garcia de la Puente Silvestre, De Leon-Bojorge Beatriz, Espinosa-Padilla Sara, Saez-de-Ocariz Marimar, Carrasco-Daza Daniel, Hernandez-Bautista Victor, Pérez-Fernandez Lorenzo, Espinosa-Rosales Francisco
Department of Clinical Immunology, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Col. Insurgentes Cuicuilco, Mexico City, Mexico.
Pediatr Nephrol. 2006 Aug;21(8):1200-5. doi: 10.1007/s00467-006-0178-3. Epub 2006 Jun 22.
Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by recurrent skin abscesses, recurrent pneumonia with pneumatocele formation, eczema, eosinophilia, and elevated levels of serum IgE. Patients with the autosomal recessive (AR) form of HIES appear to be prone to developing autoimmune diseases. We present two cases of HIES with autoimmune complications; one case was a product of a consanguineous marriage, the other one was a sporadic case. The first patient presented with recurrent episodes of erythema nodosum, warts, bronchiolitis obliterans and thrombocytopenia. The second patient developed glomerulonephritis resulting in endstage renal failure. She later developed malar rash, oral ulcers, cerebral infarcts with vasculitis and positive ANA, anti-dsDNA, and antiphospholipid antibodies. We discuss the dilemma in treating patients who present with both primary immunodeficiency and autoimmunity.
高免疫球蛋白E综合征（HIES）是一种原发性免疫缺陷病，其特征为反复出现皮肤脓肿、伴有肺气囊形成的反复肺炎、湿疹、嗜酸性粒细胞增多以及血清IgE水平升高。常染色体隐性（AR）型HIES患者似乎易于发生自身免疫性疾病。我们报告两例伴有自身免疫性并发症的HIES；一例为近亲结婚的产物，另一例为散发病例。首例患者反复出现结节性红斑、疣、闭塞性细支气管炎和血小板减少。第二例患者发生肾小球肾炎，导致终末期肾衰竭。她后来出现颊部皮疹、口腔溃疡、伴有血管炎的脑梗死以及抗核抗体、抗双链DNA抗体和抗磷脂抗体阳性。我们讨论了治疗同时患有原发性免疫缺陷和自身免疫性疾病患者时所面临的困境。
