First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
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- 作者：Otavio Cabral-Marques (1)
Stefanie Klaver (1)
Lena F Schimke (1)
évelyn H Ascendino (1)
Taj Ali Khan (1)
Paulo Vítor Soeiro Pereira (1)
Angela Falcai (1)
Alexander Vargas-Hernández (2)
Leopoldo Santos-Argumedo (2)
Liliana Bezrodnik (3)
Ileana Moreira (3)
Gisela Seminario (3)
Daniela Di Giovanni (3)
Andrea Gómez Raccio (3)
Oscar Porras (4)
Cristina Worm Weber (5)
Janaíra Fernandes Ferreira (6)
Fabiola Scancetti Tavares (7)
Elisa de Carvalho (7)
Claudia Fran?a Cavalcante Valente (7)
Gisele Kuntze (8)
Miguel Galicchio (9)
Alejandra King (10)
Nelson Augusto Rosário-Filho (11)
Milena Baptistella Grota (12)
Maria Marluce dos Santos Vilela (12)
Regina Sumiko Watanabe Di Gesu (13)
Simone Lima (14)
Leiva de Souza Moura (14)
Eduardo Talesnik (15)
Eli Mansour (16)
Pérsio Roxo-Junior (17)
Juan Carlos Aldave (18)
Ekaterine Goudouris (19)
Fernanda Pinto-Mariz (19)
Laura Berrón-Ruiz (20)
Tamara Staines-Boone (21)
Wilmer O. Córdova Calderón (22)
María del Carmen Zarate-Hernández (23)
Anete S. Grumach (24)
Ricardo Sorensen (25)
Anne Durandy (26)
Troy R. Torgerson (27)
Beatriz Tavares Costa Carvalho (28)
Francisco Espinosa-Rosales (20)
Hans D. Ochs (27)
Antonio Condino-Neto (1) - 关键词：Latin American Society for Immunodeficiencies ; Hyper ; IgM syndrome ; CD40L deficiency ; AID deficiency ; infections ; mutations
- 刊名：Journal of Clinical Immunology
- 出版年：2014
- 出版时间：February 2014
- 年：2014
- 卷：34
- 期：2
- 页码：146-156
- 全文大小：421 KB
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51. Guerra-Maranhao MC, Costa-Carvalho BT, Nudelman V, Barros-Nunes P, Carneiro-Sampaio MM, Arslanian C, et al. Response to polysaccharide antigens in patients with ataxia-telangiectasia. J Pediatr (Rio J). 2006;82(2):132-. - 作者单位：Otavio Cabral-Marques (1)
Stefanie Klaver (1)
Lena F Schimke (1)
évelyn H Ascendino (1)
Taj Ali Khan (1)
Paulo Vítor Soeiro Pereira (1)
Angela Falcai (1)
Alexander Vargas-Hernández (2)
Leopoldo Santos-Argumedo (2)
Liliana Bezrodnik (3)
Ileana Moreira (3)
Gisela Seminario (3)
Daniela Di Giovanni (3)
Andrea Gómez Raccio (3)
Oscar Porras (4)
Cristina Worm Weber (5)
Janaíra Fernandes Ferreira (6)
Fabiola Scancetti Tavares (7)
Elisa de Carvalho (7)
Claudia Fran?a Cavalcante Valente (7)
Gisele Kuntze (8)
Miguel Galicchio (9)
Alejandra King (10)
Nelson Augusto Rosário-Filho (11)
Milena Baptistella Grota (12)
Maria Marluce dos Santos Vilela (12)
Regina Sumiko Watanabe Di Gesu (13)
Simone Lima (14)
Leiva de Souza Moura (14)
Eduardo Talesnik (15)
Eli Mansour (16)
Pérsio Roxo-Junior (17)
Juan Carlos Aldave (18)
Ekaterine Goudouris (19)
Fernanda Pinto-Mariz (19)
Laura Berrón-Ruiz (20)
Tamara Staines-Boone (21)
Wilmer O. Córdova Calderón (22)
María del Carmen Zarate-Hernández (23)
Anete S. Grumach (24)
Ricardo Sorensen (25)
Anne Durandy (26)
Troy R. Torgerson (27)
Beatriz Tavares Costa Carvalho (28)
Francisco Espinosa-Rosales (20)
Hans D. Ochs (27)
Antonio Condino-Neto (1)
1. Department of Immunology, Institute of Biomedical Sciences, University of S?o Paulo, 1730 Lineu Prestes Avenue, S?o Paulo, SP, ZIP 05508-000, Brazil
2. Departamento de Biomedicina Molecular, Centro de Investigación y de Estudios Avanzados-IPN, Zacatenco, México, D.F, México
3. Dr. Ricardo Gutierrez Children’s Hospital, Immunology, Buenos Aires, Argentina
4. Hospital Nacional de Ni?os, “Dr. Carlos Sáenz Herrera- San Jose, Costa Rica
5. Pediatric Allergy & Immunology Clinic, Caxias do Sul, RS, Brazil
6. Albert Sabin Hospital, Fortaleza, CE, Brazil
7. Pediatric Immunology Clínic, Hospital de Base do Distrito Federal, Brasilia, DF, Brazil
8. Integrated Center of Pediatric Specialties, Curitiba, PR, Brazil
9. Hospital de Ni?os V. J. Vilela, Rosario, Argentina
10. Hospital Luis Calvo Mackenna, Santiago, Chile
11. Department of Pediatrics, Federal University of Paraná, Curitiba, PR, Brazil
12. Department of Pediatrics, State University of Campinas Medical School, Campinas, SP, Brazil
13. Division of Allergy and Immunolgy, Department of Pediatrics, Concei??o Children’s Hospital, Porto Alegre, RS, Brazil
14. Childrens Hospital Lucídio Portela, Teresina, PI, Brazil
15. Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile
16. Department of Medicine, State University of Campinas Medical School, Campinas, SP, Brazil
17. Ribeir?o Preto Medical School, University of S?o Paulo, Ribeir?o Preto, SP, Brazil
18. Hospital Nacional Edgardo Rebagliati Martins-Alergia e Inmunologia, Lima, Peru
19. Department of Pediatrics, School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
20. Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, México, D.F, Mexico
21. Unidad Médica de Alta Especialidad #25, IMSS, Monterrey, Nuevo León, México
22. Unidad de Inmunología, Clínica Montefiori, Lima, Perú
23. Hospital Universitario, U.A.N.L, Monterrey, Nuevo León, México
24. Faculty of Medicine ABC, Santo André, SP, Brazil
25. Department of Pediatrics, Children’s Hospital, New Orleans, LA, USA
26. INSERM, Unité U768, H?pital Necker Enfants-Malades, Paris, France
27. Department of Pediatrics, University of Washington School of Medicine, and Seattle Children’s Research Institute, Seattle, WA, USA
28. Division of Allergy-Immunology and Rheumatology, Department of Pediatrics, Federal University of S?o Paulo, S?o Paulo, Brazil - ISSN：1573-2592
文摘
Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.