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GTR Home > Conditions/Phenotypes > Granulomatous disease, chronic, autosomal recessive, 5

Granulomatous disease, chronic, autosomal recessive, 5

Synonyms
GRANULOMATOUS DISEASE, CHRONIC, DUE TO CYBC1 DEFICIENCY

Summary

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival. [from GeneReviews]

Genes See tests for all associated and related genes

  • Also known as: C17orf62, CGD5, Eros, CYBC1
    Summary: cytochrome b-245 chaperone 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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