Abstract
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense, frameshift, or nonsense mutations in the gp91phox gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deletion, a so-called "Contiguous Gene Deletion Syndrome" may result. The contiguous gene deletion syndrome is known to associate the Kell phenotype/McLeod syndrome with diseases such as X-linked chronic granulomatous disease, Duchenne muscular dystrophy, and X-linked retinitis pigmentosa. These patients are often complicated and management requires special attention to the various facets of the syndrome.
Highlights
Primary immune deficiencies can involve defects in phagocyte function, resulting in Chronic granulomatous disease (CGD) [1,2]
The Kell locus or XK gene, which encodes an essential glycoprotein for Kell antigen expression, may be involved in such cases. These larger deletions that extend across multiple genes will result in manifestations of the “Contiguous gene deletion syndrome” (Figure 1B)[8,9]
CGD is a chronic disease caused by a mutation in a gene encoding essential components of NADPH oxidase function
Summary
Primary immune deficiencies can involve defects in phagocyte function, resulting in Chronic granulomatous disease (CGD) [1,2]. The Kell locus or XK gene, which encodes an essential glycoprotein for Kell antigen expression, may be involved in such cases These larger deletions that extend across multiple genes will result in manifestations of the “Contiguous gene deletion syndrome” (Figure 1B)[8,9]. Duchenne Muscular Dystrophy DMD is an X-linked progressive myopathy that can occasionally complicate a contiguous gene deletion syndrome involving X-linked CGD [13,34]. In the case reported by Kang et al, the DMD manifestations developed several years after the successful treatment of CGD by allogeneic stem cell transplantation [13] This male child had a large scale deletion spanning the region between CYBB and DMD on the X chromosome. There is progressive loss of visual acuity and night blindness followed by a rapid decline in vision and blindness by the 4th decade
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