A phenotypic variant of Job-Buckley syndrome

Abstract

The syndrome of hyper-immunoglobulinemia E or Job-Buckley syndrome is a rare primary immunodeficiency, due to a dysfunction of the STAT 3 gene. It is characterized by a triad associating a high immunoglobulin E (IgE), eczema and recurrent severe infections with staphylococcus. It's about a patient of a 15-year-old t with a history of familial and personal atopy, a notion of bacterial and mycological infection repetitive since the age of 6 years without any similar case in the family. The clinical examination found a carapace of the scalp, a facial dysmorphism made of hypertelorism, epicanthus, mandibular prognathism, dental agenesis, macrocheilia, eczema, a stunting delay, a pubertal delay with an increase in total IgE. The patient was on oral antimycotic and topical, antibiotic, antihistamine, and vitamin C, with favorable evolution of more than 2 years. Buckley's syndrome is a rare entity that should not be ignored before a table of recurrent skin infections, inflammatory dermatitis, and hyper-gammaglobulinemia E.