Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/67412
Type: Artigo de periódico
Title: First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
Author: Cabral-Marques, O
Klaver, S
Schimke, LF
Ascendino, EH
Khan, TA
Pereira, PVS
Falcai, A
Vargas-Hernandez, A
Santos-Argumedo, L
Bezrodnik, L
Moreira, I
Seminario, G
Di Giovanni, D
Raccio, AG
Porras, O
Weber, CW
Ferreira, JF
Tavares, FS
de Carvalho, E
Valente, CFC
Kuntze, G
Galicchio, M
King, A
Rosario, NA
BaptistellaGrota, M
Vilela, MMD
di Gesu, RSW
Lima, S
Moura, LD
Talesnik, E
Mansour, E
Roxo, P
Aldave, JC
Goudouris, E
Pinto-Mariz, F
Berron-Ruiz, L
Staines-Boone, T
Calderon, WOC
Zarate-Hernandez, MD
Grumach, AS
Sorensen, R
Durandy, A
Torgerson, TR
Carvalho, BTC
Espinosa-Rosales, F
Ochs, HD
Neto, AC
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.
Subject: Latin American Society for Immunodeficiencies
Hyper-IgM syndrome
CD40L deficiency
AID deficiency, infections, mutations
Country: EUA
Editor: Springer/plenum Publishers
Rights: fechado
Identifier DOI: 10.1007/s10875-013-9980-4
Date Issue: 2014
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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