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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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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Author(s):
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Cabral-Marques, Otavio [1] ; Klaver, Stefanie [1] ; Schimke, Lena F. [1] ; Ascendino, Evelyn H. [1] ; Ali Khan, Taj [1] ; Soeiro Pereira, Paulo Vitor [1] ; Falcai, Angela [1] ; Vargas-Hernandez, Alexander [2] ; Santos-Argumedo, Leopoldo [2] ; Bezrodnik, Liliana [3] ; Moreira, Ileana [3] ; Seminario, Gisela [3] ; Di Giovanni, Daniela [3] ; Gomez Raccio, Andrea [3] ; Porras, Oscar [4] ; Weber, Cristina Worm [5] ; Ferreira, Janaira Fernandes [6] ; Tavares, Fabiola Scancetti [7] ; de Carvalho, Elisa [7] ; Cavalcante Valente, Claudia Franca [7] ; Kuntze, Gisele [8] ; Galicchio, Miguel [9] ; King, Alejandra [10] ; Rosario-Filho, Nelson Augusto [11] ; BaptistellaGrota, Milena [12] ; dos Santos Vilela, Maria Marluce [12] ; Watanabe di Gesu, Regina Sumiko [13] ; Lima, Simone [14] ; de Souza Moura, Leiva [14] ; Talesnik, Eduardo [15] ; Mansour, Eli [16] ; Roxo-Junior, Persio [17] ; Carlos Aldave, Juan [18] ; Goudouris, Ekaterine [19] ; Pinto-Mariz, Fernanda [19] ; Berron-Ruiz, Laura [20] ; Staines-Boone, Tamara [21] ; Cordova Calderon, Wilmer O. [22] ; del Carmen Zarate-Hernandez, Maria [23] ; Grumach, Anete S. [24] ; Sorensen, Ricardo [25] ; Durandy, Anne [26] ; Torgerson, Troy R. [27, 28] ; Costa Carvalho, Beatriz Tavares [29] ; Espinosa-Rosales, Francisco [20] ; Ochs, Hans D. [27, 28] ; Condino-Neto, Antonio [1]
Total Authors: 47
Affiliation:
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[1] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, BR-05508000 Sao Paulo - Brazil
[2] Ctr Invest & Estudios, Dept Biomed Mol, Mexico City, DF - Mexico
[3] Dr Ricardo Gutierrez Childrens Hosp, Buenos Aires, DF - Argentina
[4] Hosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose - Costa Rica
[5] Pediat Allergy & Immunol Clin, Caxias Do Sul, RS - Brazil
[6] Albert Sabin Hosp, Fortaleza, Ceara - Brazil
[7] Hosp Base Dist Fed, Brasilia, DF - Brazil
[8] Integrated Ctr Pediat Specialties, Curitiba, PR - Brazil
[9] Hosp Ninos VJ Vilela, Rosario - Argentina
[10] Hosp Ninos Luis Calvo Mackenna, Santiago - Chile
[11] Univ Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana - Brazil
[12] Univ Estadual Campinas, Sch Med, Dept Pediat, Campinas, SP - Brazil
[13] Conceicao Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Porto Alegre, RS - Brazil
[14] Childrens Hosp Lucidio Portela, Teresina, PI - Brazil
[15] Pontificia Univ Catolica Chile, Div Pediat, Santiago - Chile
[16] Univ Estadual Campinas, Sch Med, Dept Med, Campinas, SP - Brazil
[17] Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, SP - Brazil
[18] Hosp Nacl Edgardo Rebagliati Martins Alergia & In, Lima - Peru
[19] Univ Fed Rio de Janeiro, Sch Med, Dept Pediat, Rio De Janeiro - Brazil
[20] Inst Nacl Pediat, Unidad Invest Inmunodeficiencias, Mexico City, DF - Mexico
[21] IMSS, Unidad Med Alta Especialidad 25, Monterrey, Nuevo Leon - Mexico
[22] Clin Montefiori, Unidad Inmunol, Lima - Peru
[23] UNAL, Univ Hosp, Monterrey, Nuevo Leon - Mexico
[24] Fac Med ABC, Santo Andre, SP - Brazil
[25] Childrens Hosp, Dept Pediat, New Orleans, LA - USA
[26] Hop Necker Enfants Malad, INSERM, Unite U768, Paris - France
[27] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 - USA
[28] Seattle Childrens Res Inst, Seattle, WA - USA
[29] Univ Fed Sao Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, Sao Paulo - Brazil
Total Affiliations: 29
Document type: Journal article
Source: JOURNAL OF CLINICAL IMMUNOLOGY; v. 34, n. 2, p. 146-156, FEB 2014.
Web of Science Citations: 39
Abstract

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. (AU)

FAPESP's process: 12/50515-4 - Role of CD40L-CD40 interaction in neutrophil and macrophage-mediated antifungal immune response in humans
Grantee:Otávio Cabral Marques
Support Opportunities: Scholarships in Brazil - Post-Doctoral
FAPESP's process: 12/51745-3 - The role of CD40L-CD40 interaction in the antifungal immune response mediated by neutrophils and macrophages in humans
Grantee:Antonio Condino Neto
Support Opportunities: Regular Research Grants