Keywords
Abstract
Introduction:
Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene follow an X-linked inheritance pattern, whereas pathogenic variants in EROS, NCF1, NCF2, NCF4, or CYBA follow an autosomal recessive inheritance pattern.
Objective:
To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG vaccine infection.
Methods:
Hydrogen peroxide (H₂O₂) production and NADPH oxidase subunit expression were measured in peripheral blood neutrophils. Pathogenic variants were detected through Sanger sequencing of the NCF2 gene. Clinical information was obtained from medical records.
Results:
We present two male infants from unrelated families of the Maya ethnic group diagnosed with CGD and BCG vaccine infection. Three different pathogenic variants in the NCF2 gene were identified: c.304 C>T (p.Arg102), previously reported, and c.1369 A>T (p.Lys457) and c.979 G>T (p.Gly327)*, both novel.
Conclusions:
BCG-related mycobacterial infection should raise suspicion of an inborn error of immunity such as CGD. The diagnosis of CGD is confirmed by detecting a lack of free radical production in neutrophils. The reported patients carried pathogenic variants in the NCF2 gene, two of which have not been previously described in the literature.
References
Referencias
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