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dc.contributor.authorCabral-Marques, Otavio
dc.contributor.authorKlaver, Stefanie
dc.contributor.authorSchimke, Lena F.
dc.contributor.authorAscendino, Evelyn H.
dc.contributor.authorAli Khan, Taj
dc.contributor.authorSoeiro Pereira, Paulo Vitor
dc.contributor.authorFalcai, Angela
dc.contributor.authorVargas-Hernandez, Alexander
dc.contributor.authorSantos-Argumedo, Leopoldo
dc.contributor.authorBezrodnik, Liliana
dc.contributor.authorMoreira, Ileana
dc.contributor.authorSeminario, Gisela
dc.contributor.authorDi Giovanni, Daniela
dc.contributor.authorGomez Raccio, Andrea
dc.contributor.authorPorras, Oscar
dc.contributor.authorWeber, Cristina Worm
dc.contributor.authorFerreira, Janaira Fernandes
dc.contributor.authorTavares, Fabiola Scancetti
dc.contributor.authorCarvalho, Elisa de
dc.contributor.authorCavalcante Valente, Claudia Franca
dc.contributor.authorKuntze, Gisele
dc.contributor.authorGalicchio, Miguel
dc.contributor.authorKing, Alejandra
dc.contributor.authorRosario-Filho, Nelson Augusto
dc.contributor.authorBaptistellaGrota, Milena
dc.contributor.authorSantos Vilela, Maria Marluce dos
dc.contributor.authorWatanabe di Gesu, Regina Sumiko
dc.contributor.authorLima, Simone
dc.contributor.authorSouza Moura, Leiva de
dc.contributor.authorTalesnik, Eduardo
dc.contributor.authorMansour, Eli
dc.contributor.authorRoxo-Junior, Persio
dc.contributor.authorCarlos Aldave, Juan
dc.contributor.authorGoudouris, Ekaterine
dc.contributor.authorPinto-Mariz, Fernanda
dc.contributor.authorBerron-Ruiz, Laura
dc.contributor.authorStaines-Boone, Tamara
dc.contributor.authorCordova Calderon, Wilmer O.
dc.contributor.authordel Carmen Zarate-Hernandez, Maria
dc.contributor.authorGrumach, Anete S.
dc.contributor.authorSorensen, Ricardo
dc.contributor.authorDurandy, Anne
dc.contributor.authorTorgerson, Troy R.
dc.contributor.authorCosta-Carvalho, Beatriz Tavares [UNIFESP]
dc.contributor.authorEspinosa-Rosales, Francisco
dc.contributor.authorOchs, Hans D.
dc.contributor.authorCondino-Neto, Antonio
dc.identifier.citationJournal of Clinical Immunology. New York: Springer/plenum Publishers, v. 34, n. 2, p. 146-156, 2014.
dc.description.abstractHyper-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.en
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipJeffrey Modell Foundation
dc.description.sponsorshipLatin American Advisory Board on Primary Immunodeficiencies initiative
dc.relation.ispartofJournal of Clinical Immunology
dc.rightsAcesso restrito
dc.subjectLatin American Society for Immunodeficienciesen
dc.subjectHyper-IgM syndromeen
dc.subjectCD40L deficiencyen
dc.subjectAID deficiency, infections, mutationsen
dc.titleFirst Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomesen
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionCtr Invest & Estudios
dc.contributor.institutionDr Ricardo Gutierrez Childrens Hosp
dc.contributor.institutionHosp Nacl Ninos Dr Carlos Saenz Herrera
dc.contributor.institutionPediat Allergy & Immunol Clin
dc.contributor.institutionAlbert Sabin Hosp
dc.contributor.institutionHosp Base Dist Fed
dc.contributor.institutionIntegrated Ctr Pediat Specialties
dc.contributor.institutionHosp Ninos VJ Vilela
dc.contributor.institutionHosp Ninos Luis Calvo Mackenna
dc.contributor.institutionUniv Fed Parana
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionConceicao Childrens Hosp
dc.contributor.institutionChildrens Hosp Lucidio Portela
dc.contributor.institutionPontificia Univ Catolica Chile
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionHosp Nacl Edgardo Rebagliati Martins Alergia & In
dc.contributor.institutionUniversidade Federal do Rio de Janeiro (UFRJ)
dc.contributor.institutionInst Nacl Pediat
dc.contributor.institutionClin Montefiori
dc.contributor.institutionFac Med ABC
dc.contributor.institutionChildrens Hosp
dc.contributor.institutionHop Necker Enfants Malad
dc.contributor.institutionUniv Washington
dc.contributor.institutionSeattle Childrens Res Inst
dc.description.affiliationUniv São Paulo, Inst Biomed Sci, Dept Immunol, BR-05508000 São Paulo, Brazil
dc.description.affiliationCtr Invest & Estudios, Dept Biomed Mol, Mexico City, DF, Mexico
dc.description.affiliationDr Ricardo Gutierrez Childrens Hosp, Buenos Aires, DF, Argentina
dc.description.affiliationHosp Nacl Ninos Dr Carlos Saenz Herrera, San Jose, Costa Rica
dc.description.affiliationPediat Allergy & Immunol Clin, Caxias Do Sul, RS, Brazil
dc.description.affiliationAlbert Sabin Hosp, Fortaleza, Ceara, Brazil
dc.description.affiliationHosp Base Dist Fed, Brasilia, DF, Brazil
dc.description.affiliationIntegrated Ctr Pediat Specialties, Curitiba, PR, Brazil
dc.description.affiliationHosp Ninos VJ Vilela, Rosario, Argentina
dc.description.affiliationHosp Ninos Luis Calvo Mackenna, Santiago, Chile
dc.description.affiliationUniv Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, Dept Pediat, Campinas, SP, Brazil
dc.description.affiliationConceicao Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Porto Alegre, RS, Brazil
dc.description.affiliationChildrens Hosp Lucidio Portela, Teresina, PI, Brazil
dc.description.affiliationPontificia Univ Catolica Chile, Div Pediat, Santiago, Chile
dc.description.affiliationUniv Estadual Campinas, Sch Med, Dept Med, Campinas, SP, Brazil
dc.description.affiliationUniv São Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, SP, Brazil
dc.description.affiliationHosp Nacl Edgardo Rebagliati Martins Alergia & In, Lima, Peru
dc.description.affiliationUniv Fed Rio de Janeiro, Sch Med, Dept Pediat, Rio de Janeiro, Brazil
dc.description.affiliationInst Nacl Pediat, Unidad Invest Inmunodeficiencias, Mexico City, DF, Mexico
dc.description.affiliationIMSS, Unidad Med Alta Especialidad 25, Monterrey, Nuevo Leon, Mexico
dc.description.affiliationClin Montefiori, Unidad Inmunol, Lima, Peru
dc.description.affiliationUNAL, Univ Hosp, Monterrey, Nuevo Leon, Mexico
dc.description.affiliationFac Med ABC, Santo Andre, SP, Brazil
dc.description.affiliationChildrens Hosp, Dept Pediat, New Orleans, LA USA
dc.description.affiliationHop Necker Enfants Malad, INSERM, Unite U768, Paris, France
dc.description.affiliationUniv Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA
dc.description.affiliationSeattle Childrens Res Inst, Seattle, WA USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, Brazil
dc.description.sponsorshipIDFAPESP: 2012/50515-4
dc.description.sponsorshipIDFAPESP: 2006/57643-7
dc.description.sponsorshipIDFAPESP: 2012/51745-3
dc.description.sourceWeb of Science

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