Fraternal twins with job's syndrome and immune complex nephritis

CEN Case Reports
Salman AhmedBiruh Workeneh

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.

References

May 7, 1966·Lancet·S D DavisR J Wedgwood
Aug 26, 1998·British Journal of Rheumatology·D BrugnoniR Cattaneo
Sep 21, 2007·The New England Journal of Medicine·Steven M HollandBodo Grimbacher
Feb 11, 2014·Journal of the American Society of Nephrology : JASN·Malte A KlugerOliver M Steinmetz

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Citations

Aug 10, 2020·The Journal of Allergy and Clinical Immunology·Rishi R GoelSarthak Gupta

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