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GTR Home > Conditions/Phenotypes > Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

Synonyms
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I; Chronic granulomatous disease 1, autosomal recessive; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY

Summary

Excerpted from the GeneReview: Chronic Granulomatous Disease
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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jennifer W Leiding
Steven M Holland
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Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGD1, NCF1A, NOXO2, SH3PXD1A, p47phox, NCF1
    Summary: neutrophil cytosolic factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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