Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.

Cohort studyJournal of human immunity· Nov 2025

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.

Tiago Santos de Oliveira, Ranieri Coelho Salgado, Lillian Nunes Gomes … Antonio Condino-Neto

Read paper

Biochemical GeneticsCohort studyClinical practice

X-linked chronic granulomatous disease was the most common genotype in Latin America.

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.

Tiago Santos de Oliveira … Antonio Condino-Neto

Journal of human immunity · Nov 2025

Background

Chronic granulomatous disease (chronic granulomatous disease) is an inborn error of immunity (inborn error of immunity) caused by mutations in genes encoding components of the NADPH oxidase complex, leading to defective microbial killing and increased susceptibility to infections.

Results

most patients had the X-linked form, tied to worse survival

Pneumonia

80%

Lymphadenopathy

63%

Skin infections

55.5%

More results

Pneumonia (80%), lymphadenopathy (63%), and skin infections (55.5%) were frequent, with bacteria and fungi, such as Staphylococcus aureus , Aspergillus spp., and mycobacteria, as major pathogens.

More results

Antimicrobial prophylaxis was widely used, while IFN-γ was mainly prescribed in Mexico, mainly in cases of classic chronic granulomatous disease (XL-chronic granulomatous disease).

Hematopoietic stem cell transplantation (hematopoietic stem cell transplantation) did not improve survival compared to prophylaxis.

“

Conclusion

The study highlights the need for improved genetic diagnosis, newborn screening, regional treatment guidelines, and expanded access to hematopoietic stem cell transplantation.

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.

Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.

Related papers