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Title: First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
Authors: Cabral-Marques, Otavio
Klaver, Stefanie
Schimke, Lena F.
Ascendino, Evelyn H.
Ali Khan, Taj
Soeiro Pereira, Paulo Vitor
Falcai, Angela
Vargas-Hernandez, Alexander
Santos-Argumedo, Leopoldo
Bezrodnik, Liliana
Moreira, Ileana
Seminario, Gisela
Di Giovanni, Daniela
Gomez Raccio, Andrea
Porras, Oscar
Weber, Cristina Worm
Ferreira, Janaira Fernandes
Tavares, Fabiola Scancetti
Carvalho, Elisa de
Cavalcante Valente, Claudia Franca
Kuntze, Gisele
Galicchio, Miguel
King, Alejandra
Rosario-Filho, Nelson Augusto
BaptistellaGrota, Milena
Santos Vilela, Maria Marluce dos
Watanabe di Gesu, Regina Sumiko
Lima, Simone
Souza Moura, Leiva de
Talesnik, Eduardo
Mansour, Eli
Roxo-Junior, Persio
Carlos Aldave, Juan
Goudouris, Ekaterine
Pinto-Mariz, Fernanda
Berron-Ruiz, Laura
Staines-Boone, Tamara
Cordova Calderon, Wilmer O.
del Carmen Zarate-Hernandez, Maria
Grumach, Anete S.
Sorensen, Ricardo
Durandy, Anne
Torgerson, Troy R.
Costa-Carvalho, Beatriz Tavares [UNIFESP]
Espinosa-Rosales, Francisco
Ochs, Hans D.
Condino-Neto, Antonio
Universidade de São Paulo (USP)
Ctr Invest & Estudios
Dr Ricardo Gutierrez Childrens Hosp
Hosp Nacl Ninos Dr Carlos Saenz Herrera
Pediat Allergy & Immunol Clin
Albert Sabin Hosp
Hosp Base Dist Fed
Integrated Ctr Pediat Specialties
Hosp Ninos VJ Vilela
Hosp Ninos Luis Calvo Mackenna
Univ Fed Parana
Universidade Federal de São Paulo (UNIFESP)
Conceicao Childrens Hosp
Childrens Hosp Lucidio Portela
Pontificia Univ Catolica Chile
Universidade Estadual de Campinas (UNICAMP)
Hosp Nacl Edgardo Rebagliati Martins Alergia & In
Universidade Federal do Rio de Janeiro (UFRJ)
Inst Nacl Pediat
Clin Montefiori
Fac Med ABC
Childrens Hosp
Hop Necker Enfants Malad
Univ Washington
Seattle Childrens Res Inst
Keywords: Latin American Society for Immunodeficiencies
Hyper-IgM syndrome
CD40L deficiency
AID deficiency, infections, mutations
Issue Date: 1-Feb-2014
Publisher: Springer
Citation: Journal of Clinical Immunology. New York: Springer/plenum Publishers, v. 34, n. 2, p. 146-156, 2014.
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.
ISSN: 0271-9142
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