Family clusters of variant X-linked chronic granulomatous disease.
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.
Bender
Jeffrey M
JM
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA. jeffrey.bender@hsc.utah.edu
Rand
Thomas H
TH
Ampofo
Krow
K
Pavia
Andrew T
AT
Schober
Michelle
M
Tebo
Anne
A
Pasi
Brian
B
Augustine
Nancy H
NH
Pryor
Robert J
RJ
Wittwer
Carl T
CT
Hill
Harry R
HR
D000293:Adolescent; D000328:Adult; D001992:Bronchoalveolar Lavage Fluid / Q000382:microbiology; D019121:Burkholderia Infections / Q000382:microbiology; D016956:Burkholderia cepacia / Q000302:isolation & purification; D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D009504:Neutrophils / Q000378:metabolism; D010375:Pedigree; D012235:Rhodamines / Q000378:metabolism
D008562:Membrane Glycoproteins; D012235:Rhodamines; C058319:dihydrorhodamine 123; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases