Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency disorder. The clinical presentation is varied depending on the degree of involvement of the NADPH oxidase system responsible for the oxidative burst of neutrophils. We present 3 cases of variant X-linked CGD in an effort to introduce the disease and highlight the importance and limitations of CGD screening. The variant X-linked form of CGD results in a less severe phenotype and frequently presents later in life. Variant X-linked CGD is difficult to diagnose, but is becoming more readily recognized based on improved testing methods. A high index of suspicion in the setting of unusual infections such as Burkholderia cepacia pneumonia is essential to make the diagnosis. Family screening can lead to early intervention, prophylaxis, and appropriate genetic counseling.
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From the *Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; †Department of Pediatrics, University of Washington, Seattle, Washington; ‡St. Luke’s Children’s Hospital, Boise, Idaho; §Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; ¶ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; and ∥Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah.
Accepted for publication November 11, 2008.
Presented at the 2007 IDSA meeting in San Diego, CA.
Aspects of high-resolution melting analysis for gene scanning have been licensed by the University of Utah to Idaho Technology. C.T.W. has equity interest in Idaho Technology. There are no further potential conflicts of interest.
Address for correspondence: Jeffrey M. Bender, MD, Division of Pediatric Infectious Diseases, Department of Pediatrics, University of Utah, 30 North 1900 East, Salt Lake City, UT. E-mail: firstname.lastname@example.org.
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