Медицинская библиотека · Journal of human immunity · 2025

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

Santos de Oliveira Tiago, Salgado Ranieri Coelho, Gomes Lillian Nunes, Aranda Carolina Sanchez, Severo Ferreira Janáira Fernandes, Goudouris Ekaterini Simões, Mariz Fernanda Pinto, Alonso Maria Luiza Oliva, Rodrigues Valle Solange Oliveira, Leite Luiz Fernando Bacarini, Ain Ana Carolina da Matta, Roxo-Junior Pérsio, Montanaro Marília, de Medeiros Guimarães Flávia Alice Timburibá, Resende Franco Simone de Castro, Chong-Neto Herberto José, Rosario Filho Nelson Augusto, Bichuetti-Silva Daniélli Christinni, Dantas Vera Maria, Franco Jackeline Motta, Mendes Barreto Resende Viviane Guimaro, Lima Simone Soares, Costa Dorcas Lamounier, Dorna Mayra De Barros, Pastorino Antônio Carlos, Morgenstern Beni, Vagnozzi Rullo Vera Esteves, Braga Cartaxo Constantino Giovanni, de Sá Naiade R, Paes Barreto Irma Cecília Douglas, Chen Lobo Nancy Viegas, Anisio de Carvalho Flavia Amendola, de Souza Monica Soares, Silva Segundo Gesmar Rodrigues, de Moraes Vasconcelos Dewton, Fernandes Juliana Folloni, Tusani Gislene Santana, de Mello Prando Carolina Cardoso, Diniz Iwamura Ana Paula Zaninelli, López-Larios Arturo, Carmona Vargas Ana Jocelyn, Macías-Robles Ana Paola, Gonzalez Serrano Maria Edith, Espinosa-Padilla Sara Elva, Peñafiel Vicuña Ana Karen, Staines-Boone Aidé Tamara, Saucedo-Ramírez Omar J, García Domínguez Miguel, Canseco-Raymundo Maria R, Saracho-Weber Federico, Martínez Oscar Zavaleta, García-Pavón-Osorio Susana, Cotaya Rogelio Guzmán, Espinosa-Rosales Francisco J, Ramírez-Rivera Roselia, García-Cruz María de la Luz H, Zarate-Hernández Carmen, Blancas-Galicia Lizbeth, King Alejandra, Porras Oscar, Regairaz Lorena, Lampugnani Alejandra, de Cuellar Celia Martínez, Aldave Becerra Juan Carlos, Espinoza Liz Eliana Veramendi, Montenegro Cecilia, Schelotto Magdalena, Patiño Virginia, de Oliveira Mariane Cunha, Condino-Neto Antonio

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Аннотация

Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) caused by mutations in genes encoding components of the NADPH oxidase complex, leading to defective microbial killing and increased susceptibility to infections. This study analyzed clinical, genetic, and geospatial data from 238 CGD patients across eight Latin American countries. Genetic variants were identified in 141 patients (59%), with XL-CGD being the most common form (77%). 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. Antimicrobial prophylaxis was widely used, while IFN-γ was mainly prescribed in Mexico, mainly in cases of classic CGD (XL-CGD). Hematopoietic stem cell transplantation (HSCT) did not improve survival compared to prophylaxis. The leading cause of death was infection, particularly pneumonia and sepsis. XL-CGD patients had worse survival outcomes. The study highlights the need for improved genetic diagnosis, newborn screening, regional treatment guidelines, and expanded access to HSCT.

Для цитирования: Santos de Oliveira Tiago, Salgado Ranieri Coelho, Gomes Lillian Nunes, Aranda Carolina Sanchez, Severo Ferreira Janáira Fernandes, Goudouris Ekaterini Simões, Mariz Fernanda Pinto, Alonso Maria Luiza Oliva, Rodrigues Valle Solange Oliveira, Leite Luiz Fernando Bacarini, Ain Ana Carolina da Matta, Roxo-Junior Pérsio, Montanaro Marília, de Medeiros Guimarães Flávia Alice Timburibá, Resende Franco Simone de Castro, Chong-Neto Herberto José, Rosario Filho Nelson Augusto, Bichuetti-Silva Daniélli Christinni, Dantas Vera Maria, Franco Jackeline Motta, Mendes Barreto Resende Viviane Guimaro, Lima Simone Soares, Costa Dorcas Lamounier, Dorna Mayra De Barros, Pastorino Antônio Carlos, Morgenstern Beni, Vagnozzi Rullo Vera Esteves, Braga Cartaxo Constantino Giovanni, de Sá Naiade R, Paes Barreto Irma Cecília Douglas, Chen Lobo Nancy Viegas, Anisio de Carvalho Flavia Amendola, de Souza Monica Soares, Silva Segundo Gesmar Rodrigues, de Moraes Vasconcelos Dewton, Fernandes Juliana Folloni, Tusani Gislene Santana, de Mello Prando Carolina Cardoso, Diniz Iwamura Ana Paula Zaninelli, López-Larios Arturo, Carmona Vargas Ana Jocelyn, Macías-Robles Ana Paola, Gonzalez Serrano Maria Edith, Espinosa-Padilla Sara Elva, Peñafiel Vicuña Ana Karen, Staines-Boone Aidé Tamara, Saucedo-Ramírez Omar J, García Domínguez Miguel, Canseco-Raymundo Maria R, Saracho-Weber Federico, Martínez Oscar Zavaleta, García-Pavón-Osorio Susana, Cotaya Rogelio Guzmán, Espinosa-Rosales Francisco J, Ramírez-Rivera Roselia, García-Cruz María de la Luz H, Zarate-Hernández Carmen, Blancas-Galicia Lizbeth, King Alejandra, Porras Oscar, Regairaz Lorena, Lampugnani Alejandra, de Cuellar Celia Martínez, Aldave Becerra Juan Carlos, Espinoza Liz Eliana Veramendi, Montenegro Cecilia, Schelotto Magdalena, Patiño Virginia, de Oliveira Mariane Cunha, Condino-Neto Antonio. Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.. Journal of human immunity. 2025. DOI: 10.70962/jhi.20250033.

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