Fraternal twins with job’s syndrome and immune complex nephritis

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• 作者：Salman Ahmed ; Luan D. Truong ; Biruh Workeneh
• 刊名：CEN Case Reports
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：5
• 期：1
• 页码：61-66
• 全文大小：1,641 KB
• 刊物主题：Nephrology; Urology/Andrology;
• 出版者：Springer Japan
• ISSN：2192-4449
• 卷排序：5

文摘

Job’s syndrome or autosomal dominant hyperimmunoglobulin E syndrome (Hyper-IgE) is a rare disorder that results from a STAT3 gene mutation, which results in the absence of T-helper 17 (Th17) cells and manifests as a severe immunodeficiency. Affected individuals suffer recurrent soft tissue and pulmonary infections among other manifestations, and the spectrum of the disease is still being characterized. We describe 2 sisters with Job’s syndrome each with variable expressivity. However, both patients developed proteinuric kidney disease and had biopsies confirming the presence of immune complex glomerulonephritis with staining for immunoglobulins and complement components. Previous reports link Job’s syndrome and the development of systemic lupus erythematosus (SLE), but proliferative immune complex glomerulonephritis has not been described. We speculate that continual internal and external antigen exposure may induce an autoimmune process similar to SLE, which in turn may account for the immune complex disease in the kidney.KeywordsJob’s syndromeHyperimmunoglobulin E syndromeImmune complex glomerulonephritisLupus nephritis