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PEDIATRICS Vol. 112 No. 2 August 2003, pp. 487

CLINICAL FINDINGS LEADING TO THE DIAGNOSIS OF X-LINKED AGAMMAGLOBULINEMIA

Scott H. Sicherer, MD

New York, NY

The first 20% of the full text of this article appears below.

Conley ME, Howard V. J Pediatr. 2002;141:566–571


   Purposes of the Studies.
 
Hyper-immunoglobulin E (HIE) syndrome is an immunodeficiency disorder characterized by recurrent skin abcesses, pneumonia, elevated serum IgE, and increased incidence of dental abnormalities (retained primary teeth), bone fractures and scoliosis. X-linked agammaglobulinemia (XLA) attributable to a mutation in the gene for Bruton’s tyrosine kinase (BTK) typically results in recurrent bacterial infections in the first few years of life. These studies reviewed the clinical features of patients with these diagnoses and report clinical features that could lead to earlier diagnosis.


   Study Populations.
 
Eight children with hyper-IgE syndrome were . . . [Full Text of this Article]