Name: Granulomatous disease, chronic, 2 | Acronym: CGD2
Alt. names: NCF2 deficiency

Gene: NCF2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 1995

Last updated on: 2025-03-18 by Andrés Caballero-Oteyza

OMIM: 233710

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Immunodeficiency disorder caused by biallelic loss-of-function mutations in the NCF2 gene, encoding the p67-phox protein. The disease typically manifests within the first decade of life and is characterized by recurrent bacterial and fungal infections due to defective phagocytic function, specifically the absence of bactericidal oxidative respiratory burst. Common clinical features include pneumonia, hepatic and perirectal abscesses, splenomegaly, osteomyelitis, and cellulitis. Dermatological manifestations include infectious dermatitis, impetigo, and eczematoid dermatitis, with carriers or mildly affected individuals potentially exhibiting discoid lupus. Immunological abnormalities include lymphadenitis, lymphadenopathy, abscess formation in various organs, and susceptibility to infections by pathogens such as *Aspergillus*, *Klebsiella*, *Staphylococcus aureus*, *E. coli*, *Burkholderia cepacia*, and *Serratia marcescens*. Tissue biopsies often reveal granulomas or lipid-laden macrophages. Laboratory findings include decreased NADPH oxidase activity, deficiency or absence of p67-phox protein, negative nitroblue tetrazolium (NBT) reduction tests, and presence of cytochrome b(-245). CGD2 is one of four CGD types with similar clinical phenotypes but distinct genetic causes.

Management

Description of management option has not been reviewed yet.