First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
- Autores
- 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
- Año de publicación
- 2014
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- 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.
Fil: Cabral Marques, Otavio. Universidade de Sao Paulo; Brasil
Fil: Klaver, Stefanie. Universidade de Sao Paulo; Brasil
Fil: Schimke, Lena F. Universidade de Sao Paulo; Brasil
Fil: Ascendino, Évelyn H. Universidade de Sao Paulo; Brasil
Fil: Khan, Taj Ali. Universidade de Sao Paulo; Brasil
Fil: Pereira, Paulo Vítor Soeiro. Universidade de Sao Paulo; Brasil
Fil: Falcai, Angela. Universidade de Sao Paulo; Brasil
Fil: Vargas Hernández, Alexander. Instituto Politécnico de México; México
Fil: Santos-Argumedo, Leopoldo. Instituto Politécnico de México; México
Fil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Moreira, Ileana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Seminario, Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Raccio, Andrea Gómez. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina
Fil: Porras, Oscar. Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”; Costa Rica
Fil: Weber, Cristina Worm. Pediatric Allergy & Immunology Clinic; Brasil
Fil: Ferreira, Janaíra Fernandes. Albert Sabin Hospital; Brasil
Fil: Tavares, Fabiola Scancetti. Hospital de Base do Distrito Federal; Brasil
Fil: de Carvalho, Elisa. Hospital de Base do Distrito Federal; Brasil
Fil: Valente, Claudia França Cavalcante. Hospital de Base do Distrito Federal; Brasil
Fil: Kuntze, Gisele. Integrated Center of Pediatric Specialties; Brasil
Fil: Galicchio, Miguel. Hospital de Niños ; Argentina
Fil: King, Alejandra. Hospital ; Chile
Fil: Rosário Filho, Nelson Augusto. Universidade Federal do Paraná; Brasil
Fil: Grota, Milena Baptistella. Universidade Estadual de Campinas; Brasil
Fil: dos Santos Vilela, Maria Marluce. Universidade Estadual de Campinas; Brasil
Fil: Di Gesu, Regina Sumiko Watanabe. Conceição Children’s Hospital; Brasil
Fil: Lima, Simone. Childrens Hospital ; Brasil
Fil: de Souza Moura, Leiva. Childrens Hospital ; Brasil
Fil: Talesnik, Eduardo. Pontificia Universidad Católica de Chile; Chile
Fil: Mansour, Eli. Universidade Estadual de Campinas; Brasil
Fil: Roxo Junior, Pérsio. Universidade de Sao Paulo; Brasil
Fil: Aldave, Juan Carlos. Hospital Nacional ; Perú
Fil: Goudouris, Ekaterine. Universidade Federal do Rio de Janeiro; Brasil
Fil: Pinto Mariz, Fernanda. Universidade Federal do Rio de Janeiro; Brasil
Fil: Berrón Ruiz, Laura. Instituto Nacional de Pediatría; México
Fil: Staines Boone, Tamara. Unidad Médica de Alta Especialidad #25; México
Fil: Calderón, Wilmer O. Córdova. Clínica Montefiori; Perú
Fil: del Carmen Zarate Hernández, María. Universidad Autónoma de Nuevo León; México
Fil: Grumach, Anete S.. Universidade Federal do ABC; Brasil
Fil: Sorensen, Ricardo. Children’s Hospital of New Orleans; Estados Unidos
Fil: Durandy, Anne. Inserm; Francia
Fil: Torgerson, Troy R.. University of Washington; Estados Unidos
Fil: Carvalho, Beatriz Tavares Costa. Universidade de Sao Paulo; Brasil
Fil: Espinosa Rosales, Francisco. Instituto Nacional de Pediatría; México
Fil: Ochs, Hans D.. University of Washington; Estados Unidos
Fil: Condino Neto, Antonio. Universidade de Sao Paulo; Brasil - Materia
-
Higm Syndrome
Cd40l-Deficient
Opportunistic Infections
Aid Deficiency - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/38632
Ver los metadatos del registro completo
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First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and OutcomesCabral Marques, OtavioKlaver, StefanieSchimke, Lena FAscendino, Évelyn HKhan, Taj AliPereira, Paulo Vítor SoeiroFalcai, AngelaVargas Hernández, AlexanderSantos-Argumedo, LeopoldoBezrodnik, LilianaMoreira, IleanaSeminario, GiselaDi Giovanni, DanielaRaccio, Andrea GómezPorras, OscarWeber, Cristina WormFerreira, Janaíra FernandesTavares, Fabiola Scancettide Carvalho, ElisaValente, Claudia França CavalcanteKuntze, GiseleGalicchio, MiguelKing, AlejandraRosário Filho, Nelson AugustoGrota, Milena Baptistellados Santos Vilela, Maria MarluceDi Gesu, Regina Sumiko WatanabeLima, Simonede Souza Moura, LeivaTalesnik, EduardoMansour, EliRoxo Junior, PérsioAldave, Juan CarlosGoudouris, EkaterinePinto Mariz, FernandaBerrón Ruiz, LauraStaines Boone, TamaraCalderón, Wilmer O. Córdovadel Carmen Zarate Hernández, MaríaGrumach, Anete S.Sorensen, RicardoDurandy, AnneTorgerson, Troy R.Carvalho, Beatriz Tavares CostaEspinosa Rosales, FranciscoOchs, Hans D.Condino Neto, AntonioHigm SyndromeCd40l-DeficientOpportunistic InfectionsAid Deficiencyhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Abstract 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.Fil: Cabral Marques, Otavio. Universidade de Sao Paulo; BrasilFil: Klaver, Stefanie. Universidade de Sao Paulo; BrasilFil: Schimke, Lena F. Universidade de Sao Paulo; BrasilFil: Ascendino, Évelyn H. Universidade de Sao Paulo; BrasilFil: Khan, Taj Ali. Universidade de Sao Paulo; BrasilFil: Pereira, Paulo Vítor Soeiro. Universidade de Sao Paulo; BrasilFil: Falcai, Angela. Universidade de Sao Paulo; BrasilFil: Vargas Hernández, Alexander. Instituto Politécnico de México; MéxicoFil: Santos-Argumedo, Leopoldo. Instituto Politécnico de México; MéxicoFil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Moreira, Ileana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Seminario, Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Raccio, Andrea Gómez. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Porras, Oscar. Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”; Costa RicaFil: Weber, Cristina Worm. Pediatric Allergy & Immunology Clinic; BrasilFil: Ferreira, Janaíra Fernandes. Albert Sabin Hospital; BrasilFil: Tavares, Fabiola Scancetti. Hospital de Base do Distrito Federal; BrasilFil: de Carvalho, Elisa. Hospital de Base do Distrito Federal; BrasilFil: Valente, Claudia França Cavalcante. Hospital de Base do Distrito Federal; BrasilFil: Kuntze, Gisele. Integrated Center of Pediatric Specialties; BrasilFil: Galicchio, Miguel. Hospital de Niños ; ArgentinaFil: King, Alejandra. Hospital ; ChileFil: Rosário Filho, Nelson Augusto. Universidade Federal do Paraná; BrasilFil: Grota, Milena Baptistella. Universidade Estadual de Campinas; BrasilFil: dos Santos Vilela, Maria Marluce. Universidade Estadual de Campinas; BrasilFil: Di Gesu, Regina Sumiko Watanabe. Conceição Children’s Hospital; BrasilFil: Lima, Simone. Childrens Hospital ; BrasilFil: de Souza Moura, Leiva. Childrens Hospital ; BrasilFil: Talesnik, Eduardo. Pontificia Universidad Católica de Chile; ChileFil: Mansour, Eli. Universidade Estadual de Campinas; BrasilFil: Roxo Junior, Pérsio. Universidade de Sao Paulo; BrasilFil: Aldave, Juan Carlos. Hospital Nacional ; PerúFil: Goudouris, Ekaterine. Universidade Federal do Rio de Janeiro; BrasilFil: Pinto Mariz, Fernanda. Universidade Federal do Rio de Janeiro; BrasilFil: Berrón Ruiz, Laura. Instituto Nacional de Pediatría; MéxicoFil: Staines Boone, Tamara. Unidad Médica de Alta Especialidad #25; MéxicoFil: Calderón, Wilmer O. Córdova. Clínica Montefiori; PerúFil: del Carmen Zarate Hernández, María. Universidad Autónoma de Nuevo León; MéxicoFil: Grumach, Anete S.. Universidade Federal do ABC; BrasilFil: Sorensen, Ricardo. Children’s Hospital of New Orleans; Estados UnidosFil: Durandy, Anne. Inserm; FranciaFil: Torgerson, Troy R.. University of Washington; Estados UnidosFil: Carvalho, Beatriz Tavares Costa. Universidade de Sao Paulo; BrasilFil: Espinosa Rosales, Francisco. Instituto Nacional de Pediatría; MéxicoFil: Ochs, Hans D.. University of Washington; Estados UnidosFil: Condino Neto, Antonio. Universidade de Sao Paulo; BrasilSpringer/Plenum Publishers2014-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/38632Cabral 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; 146-1560271-9142CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs10875-013-9980-4info:eu-repo/semantics/altIdentifier/doi/10.1007%2Fs10875-013-9980-4info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:46:06Zoai:ri.conicet.gov.ar:11336/38632instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:46:06.744CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| title |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| spellingShingle |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes Cabral Marques, Otavio Higm Syndrome Cd40l-Deficient Opportunistic Infections Aid Deficiency |
| title_short |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| title_full |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| title_fullStr |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| title_full_unstemmed |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| title_sort |
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes |
| dc.creator.none.fl_str_mv |
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 |
| author |
Cabral Marques, Otavio |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Higm Syndrome Cd40l-Deficient Opportunistic Infections Aid Deficiency |
| topic |
Higm Syndrome Cd40l-Deficient Opportunistic Infections Aid Deficiency |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
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. Fil: Cabral Marques, Otavio. Universidade de Sao Paulo; Brasil Fil: Klaver, Stefanie. Universidade de Sao Paulo; Brasil Fil: Schimke, Lena F. Universidade de Sao Paulo; Brasil Fil: Ascendino, Évelyn H. Universidade de Sao Paulo; Brasil Fil: Khan, Taj Ali. Universidade de Sao Paulo; Brasil Fil: Pereira, Paulo Vítor Soeiro. Universidade de Sao Paulo; Brasil Fil: Falcai, Angela. Universidade de Sao Paulo; Brasil Fil: Vargas Hernández, Alexander. Instituto Politécnico de México; México Fil: Santos-Argumedo, Leopoldo. Instituto Politécnico de México; México Fil: Bezrodnik, Liliana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Moreira, Ileana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Seminario, Gisela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Di Giovanni, Daniela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Raccio, Andrea Gómez. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; Argentina Fil: Porras, Oscar. Hospital Nacional de Niños, “Dr. Carlos Sáenz Herrera”; Costa Rica Fil: Weber, Cristina Worm. Pediatric Allergy & Immunology Clinic; Brasil Fil: Ferreira, Janaíra Fernandes. Albert Sabin Hospital; Brasil Fil: Tavares, Fabiola Scancetti. Hospital de Base do Distrito Federal; Brasil Fil: de Carvalho, Elisa. Hospital de Base do Distrito Federal; Brasil Fil: Valente, Claudia França Cavalcante. Hospital de Base do Distrito Federal; Brasil Fil: Kuntze, Gisele. Integrated Center of Pediatric Specialties; Brasil Fil: Galicchio, Miguel. Hospital de Niños ; Argentina Fil: King, Alejandra. Hospital ; Chile Fil: Rosário Filho, Nelson Augusto. Universidade Federal do Paraná; Brasil Fil: Grota, Milena Baptistella. Universidade Estadual de Campinas; Brasil Fil: dos Santos Vilela, Maria Marluce. Universidade Estadual de Campinas; Brasil Fil: Di Gesu, Regina Sumiko Watanabe. Conceição Children’s Hospital; Brasil Fil: Lima, Simone. Childrens Hospital ; Brasil Fil: de Souza Moura, Leiva. Childrens Hospital ; Brasil Fil: Talesnik, Eduardo. Pontificia Universidad Católica de Chile; Chile Fil: Mansour, Eli. Universidade Estadual de Campinas; Brasil Fil: Roxo Junior, Pérsio. Universidade de Sao Paulo; Brasil Fil: Aldave, Juan Carlos. Hospital Nacional ; Perú Fil: Goudouris, Ekaterine. Universidade Federal do Rio de Janeiro; Brasil Fil: Pinto Mariz, Fernanda. Universidade Federal do Rio de Janeiro; Brasil Fil: Berrón Ruiz, Laura. Instituto Nacional de Pediatría; México Fil: Staines Boone, Tamara. Unidad Médica de Alta Especialidad #25; México Fil: Calderón, Wilmer O. Córdova. Clínica Montefiori; Perú Fil: del Carmen Zarate Hernández, María. Universidad Autónoma de Nuevo León; México Fil: Grumach, Anete S.. Universidade Federal do ABC; Brasil Fil: Sorensen, Ricardo. Children’s Hospital of New Orleans; Estados Unidos Fil: Durandy, Anne. Inserm; Francia Fil: Torgerson, Troy R.. University of Washington; Estados Unidos Fil: Carvalho, Beatriz Tavares Costa. Universidade de Sao Paulo; Brasil Fil: Espinosa Rosales, Francisco. Instituto Nacional de Pediatría; México Fil: Ochs, Hans D.. University of Washington; Estados Unidos Fil: Condino Neto, Antonio. Universidade de Sao Paulo; Brasil |
| description |
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. |
| publishDate |
2014 |
| dc.date.none.fl_str_mv |
2014-01 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/38632 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 |
| url |
http://hdl.handle.net/11336/38632 |
| identifier_str_mv |
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 |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007%2Fs10875-013-9980-4 info:eu-repo/semantics/altIdentifier/doi/10.1007%2Fs10875-013-9980-4 |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
| eu_rights_str_mv |
openAccess |
| rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
| dc.format.none.fl_str_mv |
application/pdf application/pdf |
| dc.publisher.none.fl_str_mv |
Springer/Plenum Publishers |
| publisher.none.fl_str_mv |
Springer/Plenum Publishers |
| dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
| reponame_str |
CONICET Digital (CONICET) |
| collection |
CONICET Digital (CONICET) |
| instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
| repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
| repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
| _version_ |
1846782161353441280 |
| score |
12.982451 |