First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Author Cabral-Marques, Otavio Google Scholar
Klaver, Stefanie Google Scholar
Schimke, Lena F. Google Scholar
Ascendino, Evelyn H. Google Scholar
Ali Khan, Taj Google Scholar
Soeiro Pereira, Paulo Vitor Google Scholar
Falcai, Angela Google Scholar
Vargas-Hernandez, Alexander Google Scholar
Santos-Argumedo, Leopoldo Google Scholar
Bezrodnik, Liliana Google Scholar
Moreira, Ileana Google Scholar
Seminario, Gisela Google Scholar
Di Giovanni, Daniela Google Scholar
Gomez Raccio, Andrea Google Scholar
Porras, Oscar Google Scholar
Weber, Cristina Worm Google Scholar
Ferreira, Janaira Fernandes Google Scholar
Tavares, Fabiola Scancetti Google Scholar
Carvalho, Elisa de Google Scholar
Cavalcante Valente, Claudia Franca Google Scholar
Kuntze, Gisele Google Scholar
Galicchio, Miguel Google Scholar
King, Alejandra Google Scholar
Rosario-Filho, Nelson Augusto Google Scholar
BaptistellaGrota, Milena Google Scholar
Santos Vilela, Maria Marluce dos Google Scholar
Watanabe di Gesu, Regina Sumiko Google Scholar
Lima, Simone Google Scholar
Souza Moura, Leiva de Google Scholar
Talesnik, Eduardo Google Scholar
Mansour, Eli Google Scholar
Roxo-Junior, Persio Google Scholar
Carlos Aldave, Juan Google Scholar
Goudouris, Ekaterine Google Scholar
Pinto-Mariz, Fernanda Google Scholar
Berron-Ruiz, Laura Google Scholar
Staines-Boone, Tamara Google Scholar
Cordova Calderon, Wilmer O. Google Scholar
del Carmen Zarate-Hernandez, Maria Google Scholar
Grumach, Anete S. Google Scholar
Sorensen, Ricardo Google Scholar
Durandy, Anne Google Scholar
Torgerson, Troy R. Google Scholar
Costa-Carvalho, Beatriz Tavares Autor UNIFESP Google Scholar
Espinosa-Rosales, Francisco Google Scholar
Ochs, Hans D. Google Scholar
Condino-Neto, Antonio Google Scholar
Institution 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
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.
Keywords Latin American Society for Immunodeficiencies
Hyper-IgM syndrome
CD40L deficiency
AID deficiency, infections, mutations
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Jeffrey Modell Foundation
Latin American Advisory Board on Primary Immunodeficiencies initiative
Grant number FAPESP: 2012/50515-4
FAPESP: 2006/57643-7
FAPESP: 2012/51745-3
Date 2014-02-01
Published in Journal of Clinical Immunology. New York: Springer/plenum Publishers, v. 34, n. 2, p. 146-156, 2014.
ISSN 0271-9142 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 146-156
Access rights Closed access
Type Article
Web of Science ID WOS:000336045400007

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