SELECTIVE IGA DEFICIENCY IN A WILLIAMS SYNDROME PATIENT, AN UNCOMMON PRESENTATION OF A COMMON DIAGNOSIS

Abstract

Introduction Williams Syndrome is a genetic disorder with distinct facial characteristics, cardiac, endocrine, and renal abnormalities and impaired cognition and development. Immunodeficiency has not been described in this syndrome. Individuals with selective IgA deficiency have low serum IgA (IgG and IgM are normal) which may result in recurrent sinopulmonary and gastrointestinal infections. We present a patient with Williams Syndrome and recurrent infections since infancy who was not diagnosed with immunodeficiency until 7 years of age. Case Description A 7-year old Caucasian male with Williams Syndrome and a history of recurrent infections (otitis media, sinusitis, bronchiolitis, and upper respiratory infections) presented for immune evaluation. He had congenital heart disease, renal disease, and recurrent nephrocalcinosis. His IgG and IgM were normal, but his IgA was low (8 mg/dL). Initially low S. pneumoniae antibodies responded well to Pneumovax-23. He was diagnosed with selective IgA deficiency. Discussion This patient had a known genetic disorder resulting in chronic problems involving his cardiovascular and renal systems. He also had a history of recurrent infections that was not evaluated until he was 7 years old, possibly because they were attributed to his underlying condition. When a patient has a chronic disorder, it is possible to become focused on the primary diagnosis and its associated complications without suspecting another disease process may be present. Williams Syndrome is not generally associated with chronic infections so it was important to evaluate him for immunodeficiency. He is currently the only reported patient with Williams Syndrome and selective IgA deficiency.