Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry
Edgar Borges de Oliveira-Junior PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorNuria Bengala Zurro MSc
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorCarolina Prando MD, PhD
Children's Hospital Little Prince, Research Institute Pelé Little Prince, Curitiba, Brazil
Search for more papers by this authorOtavio Cabral-Marques PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorPaulo Vitor Soeiro Pereira PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorLena-Friederick Schimke MD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorStefanie Klaver MSc
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorMarcia Buzolin MD
Center for Investigation in Pediatrics, State University of Campinas Medical School, Campinas, Brazil
Search for more papers by this authorLizbeth Blancas-Galicia PhD
Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico
Search for more papers by this authorLeopoldo Santos-Argumedo PhD
Centro de Investigacion de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico
Search for more papers by this authorDino Roberto Pietropaolo-Cienfuegos MD
Departamento de Alergia e Inmunología, Hospital Infantil de México “Federico Gómez”, Ciudad de México, Mexico
Search for more papers by this authorFrancisco Espinosa-Rosales MD
Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico
Search for more papers by this authorAlejandra King MD
Hospital Luis Calvo Mackenna, Santiago, Chile
Search for more papers by this authorRicardo Sorensen MD
Department of Pediatrics and JMF Diagnostic Center for PIDD, Louisiana State University Health Sciences Center, New Orleans, Louisiana
Search for more papers by this authorOscar Porras MD
Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”, San Jose, Costa Rica
Search for more papers by this authorPersio Roxo-Junior MD, PhD
Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Search for more papers by this authorWilma Carvalho Neves Forte MD
Departamento de Pediatria, Hospital Santa Casa de Misericórdia, São Paulo, Brazil
Search for more papers by this authorJulio Cesar Orellana MD
Division Alergia e Inmunologia Clinica, Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina
Search for more papers by this authorAlejandro Lozano MD
Department of Allergy and Immunology, Queen Fabiola University Clinic, Catholic University of Cordoba, Cordoba, Argentina
Search for more papers by this authorMiguel Galicchio MD
Hospital de Niños Vitor. J. Vilela, Rosario, Argentina
Search for more papers by this authorLorena Regairaz MD
Unidad de Inmunología, Hospital de Niños Sor María Ludovica La Plata, Buenos Aires, Argentina
Search for more papers by this authorAnete Sevciovic Grumach MD, PhD
Department of Medicine, ABC Medical School, Santo André, Brazil
Search for more papers by this authorBeatriz Tavares Costa-Carvalho MD, PhD
Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil
Search for more papers by this authorJacinta Bustamante MD, PhD
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, INSERM U1163 Imagine Institute, University Paris Descartes, Paris, France
Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France
Search for more papers by this authorLiliana Bezrodnik MD
Dr. Ricardo Gutierrez Children's Hospital, Immunology, Buenos Aires, Argentina
Search for more papers by this authorMatias Oleastro MD
Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
Search for more papers by this authorSilvia Danielian PhD
Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCorresponding Author
Antonio Condino-Neto PhD, MD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Correspondence to: Antonio Condino-Neto, Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, 1730 Lineu Prestes Avenue, São Paulo, SP 05508-000, Brazil. E-mail: [email protected]
Search for more papers by this authorEdgar Borges de Oliveira-Junior PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorNuria Bengala Zurro MSc
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorCarolina Prando MD, PhD
Children's Hospital Little Prince, Research Institute Pelé Little Prince, Curitiba, Brazil
Search for more papers by this authorOtavio Cabral-Marques PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorPaulo Vitor Soeiro Pereira PhD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorLena-Friederick Schimke MD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorStefanie Klaver MSc
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorMarcia Buzolin MD
Center for Investigation in Pediatrics, State University of Campinas Medical School, Campinas, Brazil
Search for more papers by this authorLizbeth Blancas-Galicia PhD
Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico
Search for more papers by this authorLeopoldo Santos-Argumedo PhD
Centro de Investigacion de Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico
Search for more papers by this authorDino Roberto Pietropaolo-Cienfuegos MD
Departamento de Alergia e Inmunología, Hospital Infantil de México “Federico Gómez”, Ciudad de México, Mexico
Search for more papers by this authorFrancisco Espinosa-Rosales MD
Immunodeficiency Research Unit, National Institute of Pediatrics, Mexico City, Mexico
Search for more papers by this authorAlejandra King MD
Hospital Luis Calvo Mackenna, Santiago, Chile
Search for more papers by this authorRicardo Sorensen MD
Department of Pediatrics and JMF Diagnostic Center for PIDD, Louisiana State University Health Sciences Center, New Orleans, Louisiana
Search for more papers by this authorOscar Porras MD
Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”, San Jose, Costa Rica
Search for more papers by this authorPersio Roxo-Junior MD, PhD
Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
Search for more papers by this authorWilma Carvalho Neves Forte MD
Departamento de Pediatria, Hospital Santa Casa de Misericórdia, São Paulo, Brazil
Search for more papers by this authorJulio Cesar Orellana MD
Division Alergia e Inmunologia Clinica, Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina
Search for more papers by this authorAlejandro Lozano MD
Department of Allergy and Immunology, Queen Fabiola University Clinic, Catholic University of Cordoba, Cordoba, Argentina
Search for more papers by this authorMiguel Galicchio MD
Hospital de Niños Vitor. J. Vilela, Rosario, Argentina
Search for more papers by this authorLorena Regairaz MD
Unidad de Inmunología, Hospital de Niños Sor María Ludovica La Plata, Buenos Aires, Argentina
Search for more papers by this authorAnete Sevciovic Grumach MD, PhD
Department of Medicine, ABC Medical School, Santo André, Brazil
Search for more papers by this authorBeatriz Tavares Costa-Carvalho MD, PhD
Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil
Search for more papers by this authorJacinta Bustamante MD, PhD
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, INSERM U1163 Imagine Institute, University Paris Descartes, Paris, France
Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France
Search for more papers by this authorLiliana Bezrodnik MD
Dr. Ricardo Gutierrez Children's Hospital, Immunology, Buenos Aires, Argentina
Search for more papers by this authorMatias Oleastro MD
Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
Search for more papers by this authorSilvia Danielian PhD
Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
Search for more papers by this authorCorresponding Author
Antonio Condino-Neto PhD, MD
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil
Correspondence to: Antonio Condino-Neto, Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, 1730 Lineu Prestes Avenue, São Paulo, SP 05508-000, Brazil. E-mail: [email protected]
Search for more papers by this authorAbstract
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-Guérin (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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.
Supporting Information
Additional supporting information may be found in the online version of this article.
| Filename | Description |
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| pbc25674-sup-0001-SuppData-S1.tiff1.6 MB | Supplemental Figure S1. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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