Abstract
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.
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Abbreviations
- AKI:
-
Acute kidney injury
- ANA:
-
Anti-nuclear antibody
- Anti-Sm:
-
Anti-smith antibody
- SLE:
-
Systemic lupus erythematosus
- STAT-3:
-
Signal transducer and activator of transcription 3
- Th17:
-
T-helper 17 cell
References
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Acknowledgments
Dr. Alejandro Restrepo for his care of these patients and his insights into pathophysiological mechanisms that result in the renal injury pattern observed. No external financial support for this manuscript.
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Written informed consent was obtained from two patients for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.
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Ahmed, S., Truong, L.D. & Workeneh, B. Fraternal twins with job’s syndrome and immune complex nephritis. CEN Case Rep 5, 61–66 (2016). https://doi.org/10.1007/s13730-015-0191-0
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DOI: https://doi.org/10.1007/s13730-015-0191-0