Artículos de revistas
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
Fecha
2014-01Registro en:
Cabral Marques, Otavio; Klaver, Stefanie; Schimke, Lena F; Ascendino, Évelyn H; Khan, Taj Ali; et al.; First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes; Springer/Plenum Publishers; Journal of Clinical Immunology; 34; 2; 1-2014; 146-156
0271-9142
CONICET Digital
CONICET
Autor
Cabral Marques, Otavio
Klaver, Stefanie
Schimke, Lena F
Ascendino, Évelyn H
Khan, Taj Ali
Pereira, Paulo Vítor Soeiro
Falcai, Angela
Vargas Hernández, Alexander
Santos-Argumedo, Leopoldo
Bezrodnik, Liliana
Moreira, Ileana
Seminario, Gisela
Di Giovanni, Daniela
Raccio, Andrea Gómez
Porras, Oscar
Weber, Cristina Worm
Ferreira, Janaíra Fernandes
Tavares, Fabiola Scancetti
de Carvalho, Elisa
Valente, Claudia França Cavalcante
Kuntze, Gisele
Galicchio, Miguel
King, Alejandra
Rosário Filho, Nelson Augusto
Grota, Milena Baptistella
dos Santos Vilela, Maria Marluce
Di Gesu, Regina Sumiko Watanabe
Lima, Simone
de Souza Moura, Leiva
Talesnik, Eduardo
Mansour, Eli
Roxo Junior, Pérsio
Aldave, Juan Carlos
Goudouris, Ekaterine
Pinto Mariz, Fernanda
Berrón Ruiz, Laura
Staines Boone, Tamara
Calderón, Wilmer O. Córdova
del Carmen Zarate Hernández, María
Grumach, Anete S.
Sorensen, Ricardo
Durandy, Anne
Torgerson, Troy R.
Carvalho, Beatriz Tavares Costa
Espinosa Rosales, Francisco
Ochs, Hans D.
Condino Neto, Antonio
Resumen
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 orAspergillus 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.