Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries
- Autores
- De Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson Dupuis, Stéphanie; Feinberg, Jacqueline; Al Muhsen, Saleh; Jannière, Lucile; Rose, Yoann; De Suremain, Maylis; Kong, Xiao Fei; Filipe Santos, Orchidée; Chapgier, Ariane; Picard, Capucine; Fischer, Alain; Dogu, Figen; Ikinciogullari, Aydan; Tanir, Gonul; Al Hajjar, Sami; Al Jumaah, Suliman; Frayha, Husn H.; Alsum, Zobaida; Al-Ajaji, Sulaiman; Alangari, Abdullah; Al Ghonaium, Abdulaziz; Adimi, Parisa; Mansouri, Davood; Ben Mustapha, Imen; King, Alejandra; Bezrodnik, Liliana
- Año de publicación
- 2010
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.
Fil: De Beaucoudrey, Ludovic. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Samarina, Arina. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia. The Rockefeller University; Estados Unidos
Fil: Bustamante, Jacinta. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Cobat, Aurélie. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Boisson Dupuis, Stéphanie. The Rockefeller University; Estados Unidos. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Feinberg, Jacqueline. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Al Muhsen, Saleh. King Faisal Specialist Hospital And Research Centre; Arabia Saudita
Fil: Jannière, Lucile. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Rose, Yoann. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: De Suremain, Maylis. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia
Fil: Kong, Xiao Fei. The Rockefeller University; Estados Unidos. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia
Fil: Filipe Santos, Orchidée. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia
Fil: Chapgier, Ariane. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia
Fil: Picard, Capucine. Hôpital Necker Enfants Malades; Francia. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia
Fil: Fischer, Alain. Inserm; Francia. Hôpital Necker Enfants Malades; Francia
Fil: Dogu, Figen. Ankara Üniversitesi; Turquía
Fil: Ikinciogullari, Aydan. Ankara Üniversitesi; Turquía
Fil: Tanir, Gonul. Dr. Sami Ulus Children's Hospital; Arabia Saudita
Fil: Al Hajjar, Sami. King Faisal Specialist Hospital And Research Centre; Arabia Saudita
Fil: Al Jumaah, Suliman. King Faisal Specialist Hospital And Research Centre; Arabia Saudita
Fil: Frayha, Husn H.. King Faisal Specialist Hospital And Research Centre; Arabia Saudita
Fil: Alsum, Zobaida. No especifíca;
Fil: Al-Ajaji, Sulaiman. King Abdulaziz Medical City; Arabia Saudita
Fil: Alangari, Abdullah. No especifíca;
Fil: Al Ghonaium, Abdulaziz. King Faisal Specialist Hospital And Research Centre; Arabia Saudita
Fil: Adimi, Parisa. National Research Institute Of Tuberculosis And Lung Disease Tehran; Irán
Fil: Mansouri, Davood. National Research Institute Of Tuberculosis And Lung Disease Tehran; Irán
Fil: Ben Mustapha, Imen. Université de Tunis El Manar. Institut Pasteur de Tunis; Túnez
Fil: King, Alejandra. Hospital Pediátrico; Argentina
Fil: Bezrodnik, Liliana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Departamento de Medicina; Argentina - Materia
-
Mycobacterium tuberculosis
IL-12Rβ1 deficiency
salmonellosis
Mendelian susceptibility to mycobacterial disease (MSMD) - 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:11336/194083
Ver los metadatos del registro completo
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Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countriesDe Beaucoudrey, LudovicSamarina, ArinaBustamante, JacintaCobat, AurélieBoisson Dupuis, StéphanieFeinberg, JacquelineAl Muhsen, SalehJannière, LucileRose, YoannDe Suremain, MaylisKong, Xiao FeiFilipe Santos, OrchidéeChapgier, ArianePicard, CapucineFischer, AlainDogu, FigenIkinciogullari, AydanTanir, GonulAl Hajjar, SamiAl Jumaah, SulimanFrayha, Husn H.Alsum, ZobaidaAl-Ajaji, SulaimanAlangari, AbdullahAl Ghonaium, AbdulazizAdimi, ParisaMansouri, DavoodBen Mustapha, ImenKing, AlejandraBezrodnik, LilianaMycobacterium tuberculosisIL-12Rβ1 deficiencysalmonellosisMendelian susceptibility to mycobacterial disease (MSMD)https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought.Fil: De Beaucoudrey, Ludovic. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Samarina, Arina. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia. The Rockefeller University; Estados UnidosFil: Bustamante, Jacinta. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Cobat, Aurélie. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Boisson Dupuis, Stéphanie. The Rockefeller University; Estados Unidos. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Feinberg, Jacqueline. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Al Muhsen, Saleh. King Faisal Specialist Hospital And Research Centre; Arabia SauditaFil: Jannière, Lucile. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Rose, Yoann. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: De Suremain, Maylis. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; FranciaFil: Kong, Xiao Fei. The Rockefeller University; Estados Unidos. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; FranciaFil: Filipe Santos, Orchidée. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; FranciaFil: Chapgier, Ariane. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; FranciaFil: Picard, Capucine. Hôpital Necker Enfants Malades; Francia. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; FranciaFil: Fischer, Alain. Inserm; Francia. Hôpital Necker Enfants Malades; FranciaFil: Dogu, Figen. Ankara Üniversitesi; TurquíaFil: Ikinciogullari, Aydan. Ankara Üniversitesi; TurquíaFil: Tanir, Gonul. Dr. Sami Ulus Children's Hospital; Arabia SauditaFil: Al Hajjar, Sami. King Faisal Specialist Hospital And Research Centre; Arabia SauditaFil: Al Jumaah, Suliman. King Faisal Specialist Hospital And Research Centre; Arabia SauditaFil: Frayha, Husn H.. King Faisal Specialist Hospital And Research Centre; Arabia SauditaFil: Alsum, Zobaida. No especifíca;Fil: Al-Ajaji, Sulaiman. King Abdulaziz Medical City; Arabia SauditaFil: Alangari, Abdullah. No especifíca;Fil: Al Ghonaium, Abdulaziz. King Faisal Specialist Hospital And Research Centre; Arabia SauditaFil: Adimi, Parisa. National Research Institute Of Tuberculosis And Lung Disease Tehran; IránFil: Mansouri, Davood. National Research Institute Of Tuberculosis And Lung Disease Tehran; IránFil: Ben Mustapha, Imen. Université de Tunis El Manar. Institut Pasteur de Tunis; TúnezFil: King, Alejandra. Hospital Pediátrico; ArgentinaFil: Bezrodnik, Liliana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Departamento de Medicina; ArgentinaLippincott Williams2010-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/194083De Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson Dupuis, Stéphanie; et al.; Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries; Lippincott Williams; Medicine; 89; 6; 11-2010; 381-4021040-2446CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1097/MD.0b013e3181fdd832info:eu-repo/semantics/altIdentifier/url/https://journals.lww.com/md-journal/Fulltext/2010/11000/Revisiting_Human_IL_12R_1_Deficiency__A_Survey_of.2.aspxinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:44:50Zoai:ri.conicet.gov.ar:11336/194083instacron: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:34982025-09-29 09:44:50.833CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| title |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| spellingShingle |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries De Beaucoudrey, Ludovic Mycobacterium tuberculosis IL-12Rβ1 deficiency salmonellosis Mendelian susceptibility to mycobacterial disease (MSMD) |
| title_short |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| title_full |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| title_fullStr |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| title_full_unstemmed |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| title_sort |
Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries |
| dc.creator.none.fl_str_mv |
De Beaucoudrey, Ludovic Samarina, Arina Bustamante, Jacinta Cobat, Aurélie Boisson Dupuis, Stéphanie Feinberg, Jacqueline Al Muhsen, Saleh Jannière, Lucile Rose, Yoann De Suremain, Maylis Kong, Xiao Fei Filipe Santos, Orchidée Chapgier, Ariane Picard, Capucine Fischer, Alain Dogu, Figen Ikinciogullari, Aydan Tanir, Gonul Al Hajjar, Sami Al Jumaah, Suliman Frayha, Husn H. Alsum, Zobaida Al-Ajaji, Sulaiman Alangari, Abdullah Al Ghonaium, Abdulaziz Adimi, Parisa Mansouri, Davood Ben Mustapha, Imen King, Alejandra Bezrodnik, Liliana |
| author |
De Beaucoudrey, Ludovic |
| author_facet |
De Beaucoudrey, Ludovic Samarina, Arina Bustamante, Jacinta Cobat, Aurélie Boisson Dupuis, Stéphanie Feinberg, Jacqueline Al Muhsen, Saleh Jannière, Lucile Rose, Yoann De Suremain, Maylis Kong, Xiao Fei Filipe Santos, Orchidée Chapgier, Ariane Picard, Capucine Fischer, Alain Dogu, Figen Ikinciogullari, Aydan Tanir, Gonul Al Hajjar, Sami Al Jumaah, Suliman Frayha, Husn H. Alsum, Zobaida Al-Ajaji, Sulaiman Alangari, Abdullah Al Ghonaium, Abdulaziz Adimi, Parisa Mansouri, Davood Ben Mustapha, Imen King, Alejandra Bezrodnik, Liliana |
| author_role |
author |
| author2 |
Samarina, Arina Bustamante, Jacinta Cobat, Aurélie Boisson Dupuis, Stéphanie Feinberg, Jacqueline Al Muhsen, Saleh Jannière, Lucile Rose, Yoann De Suremain, Maylis Kong, Xiao Fei Filipe Santos, Orchidée Chapgier, Ariane Picard, Capucine Fischer, Alain Dogu, Figen Ikinciogullari, Aydan Tanir, Gonul Al Hajjar, Sami Al Jumaah, Suliman Frayha, Husn H. Alsum, Zobaida Al-Ajaji, Sulaiman Alangari, Abdullah Al Ghonaium, Abdulaziz Adimi, Parisa Mansouri, Davood Ben Mustapha, Imen King, Alejandra Bezrodnik, Liliana |
| 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 |
| dc.subject.none.fl_str_mv |
Mycobacterium tuberculosis IL-12Rβ1 deficiency salmonellosis Mendelian susceptibility to mycobacterial disease (MSMD) |
| topic |
Mycobacterium tuberculosis IL-12Rβ1 deficiency salmonellosis Mendelian susceptibility to mycobacterial disease (MSMD) |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought. Fil: De Beaucoudrey, Ludovic. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Samarina, Arina. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia. The Rockefeller University; Estados Unidos Fil: Bustamante, Jacinta. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Cobat, Aurélie. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Boisson Dupuis, Stéphanie. The Rockefeller University; Estados Unidos. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Feinberg, Jacqueline. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Al Muhsen, Saleh. King Faisal Specialist Hospital And Research Centre; Arabia Saudita Fil: Jannière, Lucile. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Rose, Yoann. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: De Suremain, Maylis. Université Paris Cité; Francia. L'institut Des Maladies Génétiques Imagine; Francia Fil: Kong, Xiao Fei. The Rockefeller University; Estados Unidos. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia Fil: Filipe Santos, Orchidée. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia Fil: Chapgier, Ariane. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia Fil: Picard, Capucine. Hôpital Necker Enfants Malades; Francia. L'institut Des Maladies Génétiques Imagine; Francia. Université Paris Cité; Francia Fil: Fischer, Alain. Inserm; Francia. Hôpital Necker Enfants Malades; Francia Fil: Dogu, Figen. Ankara Üniversitesi; Turquía Fil: Ikinciogullari, Aydan. Ankara Üniversitesi; Turquía Fil: Tanir, Gonul. Dr. Sami Ulus Children's Hospital; Arabia Saudita Fil: Al Hajjar, Sami. King Faisal Specialist Hospital And Research Centre; Arabia Saudita Fil: Al Jumaah, Suliman. King Faisal Specialist Hospital And Research Centre; Arabia Saudita Fil: Frayha, Husn H.. King Faisal Specialist Hospital And Research Centre; Arabia Saudita Fil: Alsum, Zobaida. No especifíca; Fil: Al-Ajaji, Sulaiman. King Abdulaziz Medical City; Arabia Saudita Fil: Alangari, Abdullah. No especifíca; Fil: Al Ghonaium, Abdulaziz. King Faisal Specialist Hospital And Research Centre; Arabia Saudita Fil: Adimi, Parisa. National Research Institute Of Tuberculosis And Lung Disease Tehran; Irán Fil: Mansouri, Davood. National Research Institute Of Tuberculosis And Lung Disease Tehran; Irán Fil: Ben Mustapha, Imen. Université de Tunis El Manar. Institut Pasteur de Tunis; Túnez Fil: King, Alejandra. Hospital Pediátrico; Argentina Fil: Bezrodnik, Liliana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Departamento de Medicina; Argentina |
| description |
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years ± 9.8 years (range, 0.5-46.4 yr). IL-12Rβ1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought. |
| publishDate |
2010 |
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2010-11 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
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publishedVersion |
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http://hdl.handle.net/11336/194083 De Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson Dupuis, Stéphanie; et al.; Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries; Lippincott Williams; Medicine; 89; 6; 11-2010; 381-402 1040-2446 CONICET Digital CONICET |
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http://hdl.handle.net/11336/194083 |
| identifier_str_mv |
De Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson Dupuis, Stéphanie; et al.; Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries; Lippincott Williams; Medicine; 89; 6; 11-2010; 381-402 1040-2446 CONICET Digital CONICET |
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eng |
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eng |
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info:eu-repo/semantics/altIdentifier/doi/10.1097/MD.0b013e3181fdd832 info:eu-repo/semantics/altIdentifier/url/https://journals.lww.com/md-journal/Fulltext/2010/11000/Revisiting_Human_IL_12R_1_Deficiency__A_Survey_of.2.aspx |
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openAccess |
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application/pdf application/pdf |
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Lippincott Williams |
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Lippincott Williams |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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