Chronic Granulomatous Disease, the McLeod Phenotype and the Contiguous Gene Deletion Syndrome-a Review

Overview

Journal Clin Mol Allergy

Publisher Biomed Central

Specialty Allergy & Immunology

Date 2011 Nov 25

PMID 22111908

Citations 11

Authors

Casey E Watkins

John Litchfield

Eunkyung Song

Gayatri B Jaishankar

Niva Misra

Nikhil Holla

Michelle Duffourc

Guha Krishnaswamy

Affiliations

Soon will be listed here.

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.

Citing Articles

Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.

ODonovan C, Tan L, Abidin M, Roderick M, Grammatikos A, Bernatoniene J J Clin Med. 2024; 13(15).

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Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.

Li M, Hu X, Wu X, Zhao N, Lian Y, Ma M Front Genet. 2024; 14:1276227.

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Chronic granulomatous disease and McLeod syndrome: Stem cell transplant and transfusion support in a 2-year-old patient-a case report.

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The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.

Ehrenberg M, Weiss S, Orenstein N, Goldenberg-Cohen N, Ben-Yosef T Mol Vis. 2019; 25:691-702.

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Allogeneic Hematopoietic Cell Transplantation for Chronic Granulomatous Disease: Controversies and State of the Art.

Connelly J, Marsh R, Parikh S, Talano J J Pediatric Infect Dis Soc. 2018; 7(suppl_1):S31-S39.

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