Job Syndrome in a Patient with Seronegative Refractory Celiac Disease: A Case Report

Abstract

Job syndrome is a rare genetic immunodeficiency disorder characterized by recurrent infections, cutaneous abscesses and elevated serum IgE levels. Here we report a case of Job syndrome in a patient with seronegative refractory celiac disease. Refractory celiac disease is defined as persistent malabsorptive symptoms with villous atrophy despite of a person being adherent to a strict gluten free diet for a period of 6 to 12 months without any other cause of non-responsive celiac disease and in the absence of overt malignancy. This patient presented with the history of chronic diarrhea, recurrent skin infections like folliculitis, hypereosinophilia (eosinophil >20%) and elevated serum IgE level (IgE 7800UI/ml). He was also labelled as seronegative refractory celiac disease type I based on the clinical presentation and histopathological examination. To the best of our knowledge, Job syndrome in a patient with seronegative type I refractory celiac disease has not been reported earlier in literature