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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

(2010) MEDICINE. 89(6). p.381-402
Author
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Abstract
Interleukin-12 receptor beta 1 (IL-12R beta 1) 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-Guerin (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-12R beta 1 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.
Keywords
T-HELPER-CELLS, RECEPTOR BETA-1 DEFICIENCY, CLINICAL-FEATURES, HOST-DEFENSE, INTERFERON-GAMMA RECEPTOR, MYCOBACTERIUM-AVIUM INFECTION, IFN-GAMMA, GENETIC-HETEROGENEITY, INTERLEUKIN-12/23 MONOCLONAL-ANTIBODY, CALMETTE-GUERIN INFECTION

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MLA
de Beaucoudrey, Ludovic, Arina Samarina, Jacinta Bustamante, et al. “Revisiting Human IL-12Rβ1 Deficiency: a Survey of 141 Patients from 30 Countries.” MEDICINE 89.6 (2010): 381–402. Print.
APA
de Beaucoudrey, L., Samarina, A., Bustamante, J., Cobat, A., Boisson-Dupuis, S., Feinberg, J., Al-Muhsen, S., et al. (2010). Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. MEDICINE, 89(6), 381–402.
Chicago author-date
de Beaucoudrey, Ludovic, Arina Samarina, Jacinta Bustamante, Aurélie Cobat, Stéphanie Boisson-Dupuis, Jacqueline Feinberg, Saleh Al-Muhsen, et al. 2010. “Revisiting Human IL-12Rβ1 Deficiency: a Survey of 141 Patients from 30 Countries.” Medicine 89 (6): 381–402.
Chicago author-date (all authors)
de Beaucoudrey, Ludovic, Arina Samarina, Jacinta Bustamante, Aurélie Cobat, Stéphanie Boisson-Dupuis, Jacqueline Feinberg, Saleh Al-Muhsen, Lucile Jannière, Yoann Rose, Maylis de Suremain, Xiao-Fei Kong, Orchidée Filipe-Santos, Ariane Chapgier, Capucine Picard, Alain Fischer, Figen Dogu, Aydan Ikinciogullari, Gonul Tanir, Sami Al-Hajjar, Suliman Al-Jumaah, Husn H Frayha, Zobaida Alsum, Sulaiman Al-Ajaji, Abdullah Alangari, Abdulaziz Al-Ghonaium, Parisa Adimi, Davood Mansouri, Imen Ben-Mustapha, Judith Yancoski, Ben-Zion Garty, Carlos Rodriguez-Gallego, Isabel Caragol, Necil Kutukculer, Dinakantha S Kumararatne, Smita Patel, Rainer Doffinger, Andrew Exley, Olle Jeppsson, Janine Reichenbach, David Nadal, Yaryna Boyko, Barbara Pietrucha, Suzanne Anderson, Michael Levin, Liliane Schandené, Kinda Schepers, André Efira, Françoise Mascart, Masao Matsuoka, Tatsunori Sakai, Claire-Anne Siegrist, Klara Frecerova, Renate Blüetters-Sawatzki, Jutta Bernhöft, Joachim Freihorst, Ulrich Baumann, Darko Richter, Filomeen Haerynck, Frans De Baets, Vas Novelli, David Lammas, Christiane Vermylen, David Tuerlinckx, Chris Nieuwhof, Malgorzata Pac, Walther H Haas, Ingrid Müller-Fleckenstein, Bernhard Fleckenstein, Jacob Levy, Revathi Raj, Aileen Cleary Cohen, David B Lewis, Steven M Holland, Kuender D Yang, XiaoChuan Wang, XiaoHong Wang, LiPing Jiang, XiQiang Yang, ChaoMin Zhu, YuanYuan Xie, Pamela Pui Wah Lee, Koon Wing Chan, Tong-Xin Chen, Gabriela Castro, Ivelisse Natera, Ana Codoceo, Alejandra King, Liliana Bezrodnik, Daniela Di Giovani, Maria Isabel Gaillard, Dewton de Moraes-Vasconcelos, Anete Sevciovic Grumach, Alberto Jose da Silva Duarte, Ruth Aldana, Francisco Javier Espinosa-Rosales, Mohammed Bejaoui, Ahmed Aziz Bousfiha, Jamila El Baghdadi, Namik Özbek, Guzide Aksu, Melike Keser, Ayper Somer, Nevin Hatipoglu, Çigdem Aydogmus, Suna Asilsoy, Yildiz Camcioglu, Saniye Gülle, Tuba T Ozgur, Meteran Ozen, Matias Oleastro, Andrea Bernasconi, Setareh Mamishi, Nima Parvaneh, Sergio Rosenzweig, Ridha Barbouche, Sigifredo Pedraza, Yu Lung Lau, Mohammad S Ehlayel, Claire Fieschi, Laurent Abel, Ozden Sanal, and Jean-Laurent Casanova. 2010. “Revisiting Human IL-12Rβ1 Deficiency: a Survey of 141 Patients from 30 Countries.” Medicine 89 (6): 381–402.
Vancouver
1.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. MEDICINE. 2010;89(6):381–402.
IEEE
[1]
L. de Beaucoudrey et al., “Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries,” MEDICINE, vol. 89, no. 6, pp. 381–402, 2010.
@article{1105742,
  abstract     = {Interleukin-12 receptor beta 1 (IL-12R beta 1) 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-Guerin (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-12R beta 1 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.},
  author       = {de Beaucoudrey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurélie and Boisson-Dupuis, Stéphanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Jannière, Lucile and Rose, Yoann and de Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidée and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Rodriguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Andrew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandené, Liliane and Schepers, Kinda and Efira, André and Mascart, Françoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blüetters-Sawatzki, Renate and Bernhöft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Müller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, XiaoChuan and Wang, XiaoHong and Jiang, LiPing and Yang, XiQiang and Zhu, ChaoMin and Xie, YuanYuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejandra and Bezrodnik, Liliana and Di Giovani, Daniela and Gaillard, Maria Isabel and de Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and da Silva Duarte, Alberto Jose and Aldana, Ruth and Espinosa-Rosales, Francisco Javier and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and El Baghdadi, Jamila and Özbek, Namik and Aksu, Guzide and Keser, Melike and Somer, Ayper and Hatipoglu, Nevin and Aydogmus, Çigdem and Asilsoy, Suna and Camcioglu, Yildiz and Gülle, Saniye and Ozgur, Tuba T and Ozen, Meteran and Oleastro, Matias and Bernasconi, Andrea and Mamishi, Setareh and Parvaneh, Nima and Rosenzweig, Sergio and Barbouche, Ridha and Pedraza, Sigifredo and Lau, Yu Lung and Ehlayel, Mohammad S and Fieschi, Claire and Abel, Laurent and Sanal, Ozden and Casanova, Jean-Laurent},
  issn         = {0025-7974},
  journal      = {MEDICINE},
  keywords     = {T-HELPER-CELLS,RECEPTOR BETA-1 DEFICIENCY,CLINICAL-FEATURES,HOST-DEFENSE,INTERFERON-GAMMA RECEPTOR,MYCOBACTERIUM-AVIUM INFECTION,IFN-GAMMA,GENETIC-HETEROGENEITY,INTERLEUKIN-12/23 MONOCLONAL-ANTIBODY,CALMETTE-GUERIN INFECTION},
  language     = {eng},
  number       = {6},
  pages        = {381--402},
  title        = {Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries},
  url          = {http://dx.doi.org/10.1097/MD.0b013e3181fdd832},
  volume       = {89},
  year         = {2010},
}

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