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Condition report · Immunological

Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

A condition report looks for rare variants known to cause the conditions it covers.

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The 9 conditions we analyse

Phagocyte Bactericidal Dysfunction

Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.

Genes analysed

Specific forms also covered

  • Chronic Granulomatous Disease

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

    CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4

  • Granulomatous Disease, Chronic, Autosomal Recessive, 5

    Autosomal recessive

    CYBC1

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3

    Autosomal recessive

    NCF4

  • Granulomatous Disease, Chronic, X-Linked

    X-linked recessive

    CYBB

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

    Autosomal recessive

    Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.

    NCF2

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1

    Autosomal recessive

    Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.

    NCF1

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

    Autosomal recessive

    CYBA

  • Granulomatous Disease With Defect In Neutrophil Chemotaxis

Includes 8 related subtypes ↓
  • chronic granulomatous disease
  • granulomatous disease with defect in neutrophil chemotaxis
  • granulomatous disease, chronic, autosomal recessive, 5
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
  • granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
  • granulomatous disease, chronic, X-linked
MONDO:0005910MedGen 14713

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