Unusual presentations and associations of hyper IgE Syndrome: Retrospective analysis of ten cases at tertiary care institute – With review of indian published reports

Nayan H Patel, Jigna K Padhiyar, Yogesh B Shah, Trusha P Gajjar, Mansi D Buch

Indian Journal of Paediatric Dermatology 2018 19(1):31-36

Background: Job syndrome also known as hyper IgE syndrome (HIES) is primary immunodeficiency syndrome. Autosomal dominant variant caused by mutation in signal transducer and activator of transcription-3 gene is characterized by recurrent staphylococcal skin infections, sinopulmonary infections, eczema, recurrent bone fractures, and coarse facial features. Autosomal recessive (AR) variant is because of mutation in DOCK8 gene which lacks the skeletal and dental involvement but manifest with severe viral infection and develop neurological complications. Aims: This study aims to evaluate variable presentations and associations of job syndrome. Methods: Analysis of ten cases, presented at our department between October 2015 and September 2016, with suspected HIES was done retrospectively. All cases were studied for their presentations and associations and were investigated accordingly for the same. Score for HIES was counted as per National Institutes of Health (NIH) scoring system. Indian published reports were found by internet search engine and were reviewed for unusual presentations. Results: NIH scoring was indeterminate in two patients and was highly likely for autosomal dominant-HIES in five patients. Three patients were diagnosed as AR-HIES. Two of our patients had multiple endocrinopathy, one had pyoderma gangrenosum and two patients had autoimmune disorders. Limitations: Genetic analysis was not done because of nonavailability of testing in our state and poor financial conditions of patients. It is a retrospective study. Conclusion: Our patients had unusual association in the form of multiple endocrinopathy, pyoderma gangrenosum, dermatomyositis, and all were diagnosed very much late in life. Hence, a vigilant eye for suspicion at a younger age might benefit patients.