[MIM 306 400]

(chronic septic granulomatosis, Bridges and Good syndrome)

Prevalence: 1/106. Non-specific immune deficiency due to a disorder of the oxidative metabolism of the phagocytic cells following a deficiency in NADPH oxidase, that prevents the formation of superoxide bactericides (including H2O2, O2-) in the cytoplasm of these phagocytic cells.

There are several genetic causes described as CGD (acronym for Chronic Granulomatous Disease):

-        CGDX: the most frequent and severe form: recessive X-linked transmission of a mutation of the CYBB gene (Xp21.1-p11.4)  resulting in a deficit or dysfunction of the β subunit of cytochrome b; the mutation carriers appear to be at increased risk of discoid lupus erythematous

-        CGD1: autosomal recessive transmission of a mutation of the NCF1 gene (7q11) [MIM 233 700]

-        CGD2: autosomal recessive transmission of a mutation of the NCF2 gene (1q25) [MIM233 710]

-        CGD3: autosomal recessive transmission of a mutation of the NCF4 gene (22q13) [MIM 613 960]

-        CGD4: autosomal recessive transmission of a mutation of the CYBA gene (16q24) [MIM 233 690]

-        CGD5: autosomal recessive transmission of a mutation of the CYBC1 gene (17q25) [MIM 618 935]

Another similar syndrome, called Neutrophil Immunodeficiency Syndrome [MIM 608 203], due to a mutation of the RAC2 gene (22q13.1) described in one child, involves another protein of the NADPH oxidase complex.

Clinical presentation: onset in the first months of life; recurrent infections (skin, lungs, bones), adenopathies, digestive inflammatory disease ...

Biology: neutrophil hyperleucocytosis, hypergammaglobulinemia, normal cellular and humoral immunity, tetrazolium nitroblue test

Lesions: granulomatous reaction with many macrophages

Treatment: antibiotics, itraconazole, bone marrow allograft

Anesthetic implications:

antibioprophylaxis, drug interactions with immunosuppressants in case of bone marrow transplantation

References :

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Updated:  August 2020