CLINICAL FINDINGS LEADING TO THE DIAGNOSIS OF X-LINKED AGAMMAGLOBULINEMIA
Scott H. Sicherer, MD
New York, NY
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Conley ME, Howard V. J Pediatr. 2002;141:566571
Purposes of the Studies.
Hyper-immunoglobulin E (HIE) syndrome is an immunodeficiencydisorder characterized by recurrent skin abcesses, pneumonia,elevated serum IgE, and increased incidence of dental abnormalities(retained primary teeth), bone fractures and scoliosis. X-linkedagammaglobulinemia (XLA) attributable to a mutation in the genefor Brutons tyrosine kinase (BTK) typically results inrecurrent bacterial infections in the first few years of life.These studies reviewed the clinical features of patients withthese diagnoses and report clinical features that could leadto earlier diagnosis.