Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report From the LASID Registry

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de Oliveira-Junior, Edgar Borges ^[1] ; Zurro, Nuria Bengala ^[1] ; Prando, Carolina ^[2] ; Cabral-Marques, Otavio ^[1] ; Soeiro Pereira, Paulo Vitor ^[1] ; Schimke, Lena-Friederick ^[1] ; Klaver, Stefanie ^[1] ; Buzolin, Marcia ^[3] ; Blancas-Galicia, Lizbeth ^[4] ; Santos-Argumedo, Leopoldo ^[5] ; Pietropaolo-Cienfuegos, Dino Roberto ^[6] ; Espinosa-Rosales, Francisco ^[4] ; King, Alejandra ^[7] ; Sorensen, Ricardo ^{[8, 9]} ; Porras, Oscar ^[10] ; Roxo-Junior, Persio ^[11] ; Neves Forte, Wilma Carvalho ^[12] ; Cesar Orellana, Julio ^[13] ; Lozano, Alejandro ^[14] ; Galicchio, Miguel ^[15] ; Regairaz, Lorena ^[16] ; Grumach, Anete Sevciovic ^[17] ; Costa-Carvalho, Beatriz Tavares ^[18] ; Bustamante, Jacinta ^{[19, 20]} ; Bezrodnik, Liliana ^[21] ; Oleastro, Matias ^[22] ; Danielian, Silvia ^[22] ; Condino-Neto, Antonio ^[1]

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^[1] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, BR-05508000 Sao Paulo, SP - Brazil

^[2] Res Inst Pele Little Prince, Childrens Hosp Little Prince, Curitiba, Parana - Brazil

^[3] Univ Estadual Campinas, Sch Med, Ctr Invest Pediat, Campinas, SP - Brazil

^[4] Natl Inst Pediat, Immunodeficiency Res Unit, Mexico City, DF - Mexico

^[5] Inst Politecn Nacl, Ctr Invest & Estudios Avanzados, Mexico City, DF - Mexico

^[6] Hosp Infantil Mexico Dr Federico Gomez, Dept Alergia & Inmunol, Mexico City, DF - Mexico

^[7] Hosp Ninos Luis Calvo Mackenna, Santiago - Chile

^[8] Louisiana State Univ, Hlth Sci Ctr, Dept Pediat, New Orleans, LA - USA

^[9] Louisiana State Univ, Hlth Sci Ctr, JMF Diagnost Ctr PIDD, New Orleans, LA - USA

^[10] Hosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose - Costa Rica

^[11] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pediat, BR-14049 Ribeirao Preto - Brazil

^[12] Hosp Santa Casa de Misericordia, Dept Pediat, Sao Paulo - Brazil

^[13] Hosp Ninos Santisima Trinidad, Div Alergia & Inmunol Clin, Cordoba - Argentina

^[14] Catholic Univ Cordoba, Queen Fabiola Univ Clin, Dept Allergy & Immunol, Cordoba - Argentina

^[15] Hosp Ninos Vitor J Vilela, Rosario, Santa Fe - Argentina

^[16] Hosp Ninos Sor Maria Ludovica La Plata, Unidad Inmunol, Buenos Aires, DF - Argentina

^[17] ABC Med Sch, Dept Med, Santo Andre - Brazil

^[18] Univ Fed Sao Paulo, Dept Pediat, Sao Paulo - Brazil

^[19] Univ Paris 05, INSERM U1163, Imagine Inst, Lab Human Genet Infect Dis, Paris - France

^[20] Necker Enfants Malad Hosp, AP HP, Ctr Study Primary Immunodeficiencies, Paris - France

^[21] Dr Ricardo Gutierrez Childrens Hosp, Immunol, Buenos Aires, DF - Argentina

^[22] Hosp Nacl Pediat Prof Dr Juan P Garrahan, Serv Inmunol & Reumatol, Buenos Aires, DF - Argentina

• Tipo de documento: Artigo Científico
• Fonte: PEDIATRIC BLOOD & CANCER; v. 62, n. 12, p. 2101-2107, DEC 2015.
• Citações Web of Science: 27

Resumo

Aim. We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. Results. Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD diagnosis was 52.7 months. Recurrent pneumonia was the most frequent clinical condition (76.8%), followed by lymphadenopathy (59.4%), granulomata (49.3%), skin infections (42%), chronic diarrhea (41.9%), otitis (29%), sepsis (23.2%), abscesses (21.7%), recurrent urinary tract infection (20.3%), and osteomyelitis (15.9%). Adverse reactions to bacillus Calmette-Guerin (BCG) vaccination were identified in 30% of the studied Latin American CGD cases. The genetic diagnoses of the 71 patients revealed 53 patients from 47 families with heterogeneous mutations in the CYBB gene (five novel mutations: p.W361G, p.C282X, p.W483R, p.R226X, and p.Q93X), 16 patients with the common deletion c.75\_76 del.GT in exon 2 of NCF1 gene, and two patients with mutations in the CYBA gene. Conclusion. The majority of Latin American CGD patients carry a hemizygous mutation in the CYBB gene. They also presented a wide range of clinical manifestations most frequently bacterial and fungal infections of the respiratory tract, skin, and lymph nodes. Thirty percent of the Latin American CGD patients presented adverse reactions to BCG, indicating that this vaccine should be avoided in these patients. (C) 2015 Wiley Periodicals, Inc. (AU)

• Processo FAPESP: 10/51336-0 - Novos defeitos genético-moleculares envolvidos na susceptibilidade Mendeliana a infecções por micobactérias
• Beneficiário: Edgar Borges de Oliveira Junior
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado