Davis Buckley Hyperimmunoglobulin E Syndrome associated With IgA Deficiency: The Second Case - Abstract
Background: Davis Buckley hyperimmunoglobulin E (IgE), recurrent infection syndromes are very rare group of heterogeneous disorders of variable genetic basis and manifestations, but they are essentially characterized by significant elevation of serum IgE levels occurring in association with recurrent infections with or without coarse facial features and eosinophilia. The aim of this paper is to report the occurrence of an extraordinary case of Davis Buckley syndrome associated with associated with IgA deficiency.
Patients and methods: An Iraqi boy of Turkish origins was referred at the age of 10 years to the pediatric psychiatry clinic at the Children Teaching Hospital of Baghdad Medical City because of poor school performance and poor attention span was studied.
Results: The boy didn’t have coarse facial features or facial dysmorphism .During the previous few years the boy was experiencing urinary tract infections and recurrent ear infections associated with discharge and was being treated with several courses of antibiotics. The boy didn’t have growth retardation or bony or dental abnormalities. The parents were health relative, and family history was negative for similar condition. Blood tests showed eosinophilia and reactive thrombocytosis. Serum IgE was significantly elevated at the level of 0.4mg/dL (normal 0.01-0.04 mg/dL).The patient also had very low IgA level which was 18 mg/dL (normal 90-450 mg/dL). Mutation analysis was positive for Stat 3 mutation.
Conclusion: There has been only one case of Davis Buckley syndrome associated with low IgA levels reported by Mazzone et al (1996). The case in this paper is most probably the second case of the syndrome associated with IgA deficiency.