Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

Ludovic de Beaucoudrey; Arina Samarina; Jacinta Bustamante; Aurelie Cobat; Stephanie Boisson-Dupuis; Jacqueline Feinberg; Saleh Al-Muhsen; Lucile Janniere; Yoann Rose; Maylis de Suremain; Xiao-Fei Kong; Orchidee 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 Schandene; Kinda Schepers; Andre Efira; Francoise Mascart; Masao Matsuoka; Tatsunori Sakai; Claire-Anne Siegrist; Klara Frecerova; Renate Blueetters-Sawatzki; Jutta Bernhoeft; 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 Mueller-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 Ozbek; Guzide Aksu; Melike Keser; Ayper Somer; Nevin Hatipoglu; Cigdem Aydogmus; Suna Asilsoy; Yildiz Camcioglu; Saniye Gulle; 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; Jean-Laurent Casanova

doi:10.1097/MD.0b013e3181fdd832

Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante, Aurelie Cobat, Stephanie Boisson-Dupuis, Jacqueline Feinberg, Saleh Al-Muhsen, Lucile Janniere, Yoann Rose, Maylis de Suremain, Xiao-Fei Kong, Orchidee Filipe-Santos, Ariane Chapgier, Capucine Picard, Alain Fischer, Figen Dogu, Aydan Ikinciogullari, Gonul Tanir, Sami Al-Hajjar, Suliman Al-JumaahHusn 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 Schandene, Kinda Schepers, Andre Efira, Francoise Mascart, Masao Matsuoka, Tatsunori Sakai, Claire-Anne Siegrist, Klara Frecerova, Renate Blueetters-Sawatzki, Jutta Bernhoeft, 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 Mueller-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 Ozbek, Guzide Aksu, Melike Keser, Ayper Somer, Nevin Hatipoglu, Cigdem Aydogmus, Suna Asilsoy, Yildiz Camcioglu, Saniye Gulle, 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, Jean-Laurent Casanova^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

262 Citations (Web of Science)

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.

Original language	English
Pages (from-to)	381-402
Journal	Medicine
Volume	89
Issue number	6
DOIs	https://doi.org/10.1097/MD.0b013e3181fdd832
Publication status	Published - Nov 2010

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10.1097/MD.0b013e3181fdd832

Cite this

de Beaucoudrey, L., Samarina, A., Bustamante, J., Cobat, A., Boisson-Dupuis, S., Feinberg, J., Al-Muhsen, S., Janniere, L., Rose, Y., de Suremain, M., Kong, X-F., Filipe-Santos, O., Chapgier, A., Picard, C., Fischer, A., Dogu, F., Ikinciogullari, A., Tanir, G., Al-Hajjar, S., ... Casanova, J-L. (2010). Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries. Medicine, 89(6), 381-402. https://doi.org/10.1097/MD.0b013e3181fdd832

@article{e628c02aaf78439db56f243fc39dd023,

title = "Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries",

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 Arina Samarina and Jacinta Bustamante and Aurelie Cobat and Stephanie Boisson-Dupuis and Jacqueline Feinberg and Saleh Al-Muhsen and Lucile Janniere and Yoann Rose and {de Suremain}, Maylis and Xiao-Fei Kong and Orchidee Filipe-Santos and Ariane Chapgier and Capucine Picard and Alain Fischer and Figen Dogu and Aydan Ikinciogullari and Gonul Tanir and Sami Al-Hajjar and Suliman Al-Jumaah and Frayha, {Husn H.} and Zobaida Alsum and Sulaiman Al-Ajaji and Abdullah Alangari and Abdulaziz Al-Ghonaium and Parisa Adimi and Davood Mansouri and Imen Ben-Mustapha and Judith Yancoski and Ben-Zion Garty and Carlos Rodriguez-Gallego and Isabel Caragol and Necil Kutukculer and Kumararatne, {Dinakantha S.} and Smita Patel and Rainer Doffinger and Andrew Exley and Olle Jeppsson and Janine Reichenbach and David Nadal and Yaryna Boyko and Barbara Pietrucha and Suzanne Anderson and Michael Levin and Liliane Schandene and Kinda Schepers and Andre Efira and Francoise Mascart and Masao Matsuoka and Tatsunori Sakai and Claire-Anne Siegrist and Klara Frecerova and Renate Blueetters-Sawatzki and Jutta Bernhoeft and Joachim Freihorst and Ulrich Baumann and Darko Richter and Filomeen Haerynck and {De Baets}, Frans and Vas Novelli and David Lammas and Christiane Vermylen and David Tuerlinckx and Chris Nieuwhof and Malgorzata Pac and Haas, {Walther H.} and Ingrid Mueller-Fleckenstein and Bernhard Fleckenstein and Jacob Levy and Revathi Raj and Cohen, {Aileen Cleary} and Lewis, {David B.} and Holland, {Steven M.} and Yang, {Kuender D.} and Xiaochuan Wang and Xiaohong Wang and Liping Jiang and Xiqiang Yang and Chaomin Zhu and Yuanyuan Xie and Lee, {Pamela Pui Wah} and Chan, {Koon Wing} and Tong-Xin Chen and Gabriela Castro and Ivelisse Natera and Ana Codoceo and Alejandra King and Liliana Bezrodnik and {Di Giovani}, Daniela and {Isabel Gaillard}, Maria and {de Moraes-Vasconcelos}, Dewton and Grumach, {Anete Sevciovic} and {da Silva Duarte}, {Alberto Jose} and Ruth Aldana and {Javier Espinosa-Rosales}, Francisco and Mohammed Bejaoui and Bousfiha, {Ahmed Aziz} and {El Baghdadi}, Jamila and Namik Ozbek and Guzide Aksu and Melike Keser and Ayper Somer and Nevin Hatipoglu and Cigdem Aydogmus and Suna Asilsoy and Yildiz Camcioglu and Saniye Gulle and Ozgur, {Tuba T.} and Meteran Ozen and Matias Oleastro and Andrea Bernasconi and Setareh Mamishi and Nima Parvaneh and Sergio Rosenzweig and Ridha Barbouche and Sigifredo Pedraza and Lau, {Yu Lung} and Ehlayel, {Mohammad S.} and Claire Fieschi and Laurent Abel and Ozden Sanal and Jean-Laurent Casanova",

year = "2010",

month = nov,

doi = "10.1097/MD.0b013e3181fdd832",

language = "English",

volume = "89",

pages = "381--402",

journal = "Medicine",

issn = "0025-7974",

publisher = "LIPPINCOTT WILLIAMS & WILKINS",

number = "6",

}

de Beaucoudrey, L, Samarina, A, Bustamante, J, Cobat, A, Boisson-Dupuis, S, Feinberg, J, Al-Muhsen, S, Janniere, L, Rose, Y, de Suremain, M, Kong, X-F, Filipe-Santos, O, Chapgier, A, Picard, C, Fischer, A, Dogu, F, Ikinciogullari, A, Tanir, G, Al-Hajjar, S, Al-Jumaah, S, Frayha, HH, Alsum, Z, Al-Ajaji, S, Alangari, A, Al-Ghonaium, A, Adimi, P, Mansouri, D, Ben-Mustapha, I, Yancoski, J, Garty, B-Z, Rodriguez-Gallego, C, Caragol, I, Kutukculer, N, Kumararatne, DS, Patel, S, Doffinger, R, Exley, A, Jeppsson, O, Reichenbach, J, Nadal, D, Boyko, Y, Pietrucha, B, Anderson, S, Levin, M, Schandene, L, Schepers, K, Efira, A, Mascart, F, Matsuoka, M, Sakai, T, Siegrist, C-A, Frecerova, K, Blueetters-Sawatzki, R, Bernhoeft, J, Freihorst, J, Baumann, U, Richter, D, Haerynck, F, De Baets, F, Novelli, V, Lammas, D, Vermylen, C, Tuerlinckx, D, Nieuwhof, C, Pac, M, Haas, WH, Mueller-Fleckenstein, I, Fleckenstein, B, Levy, J, Raj, R, Cohen, AC, Lewis, DB, Holland, SM, Yang, KD, Wang, X, Wang, X, Jiang, L, Yang, X, Zhu, C, Xie, Y, Lee, PPW, Chan, KW, Chen, T-X, Castro, G, Natera, I, Codoceo, A, King, A, Bezrodnik, L, Di Giovani, D, Isabel Gaillard, M, de Moraes-Vasconcelos, D, Grumach, AS, da Silva Duarte, AJ, Aldana, R, Javier Espinosa-Rosales, F, Bejaoui, M, Bousfiha, AA, El Baghdadi, J, Ozbek, N, Aksu, G, Keser, M, Somer, A, Hatipoglu, N, Aydogmus, C, Asilsoy, S, Camcioglu, Y, Gulle, S, Ozgur, TT, Ozen, M, Oleastro, M, Bernasconi, A, Mamishi, S, Parvaneh, N, Rosenzweig, S, Barbouche, R, Pedraza, S, Lau, YL, Ehlayel, MS, Fieschi, C, Abel, L, Sanal, O & Casanova, J-L 2010, 'Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries', Medicine, vol. 89, no. 6, pp. 381-402. https://doi.org/10.1097/MD.0b013e3181fdd832

TY - JOUR

T1 - Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries

AU - de Beaucoudrey, Ludovic

AU - Samarina, Arina

AU - Bustamante, Jacinta

AU - Cobat, Aurelie

AU - Boisson-Dupuis, Stephanie

AU - Feinberg, Jacqueline

AU - Al-Muhsen, Saleh

AU - Janniere, Lucile

AU - Rose, Yoann

AU - de Suremain, Maylis

AU - Kong, Xiao-Fei

AU - Filipe-Santos, Orchidee

AU - Chapgier, Ariane

AU - Picard, Capucine

AU - Fischer, Alain

AU - Dogu, Figen

AU - Ikinciogullari, Aydan

AU - Tanir, Gonul

AU - Al-Hajjar, Sami

AU - Al-Jumaah, Suliman

AU - Frayha, Husn H.

AU - Alsum, Zobaida

AU - Al-Ajaji, Sulaiman

AU - Alangari, Abdullah

AU - Al-Ghonaium, Abdulaziz

AU - Adimi, Parisa

AU - Mansouri, Davood

AU - Ben-Mustapha, Imen

AU - Yancoski, Judith

AU - Garty, Ben-Zion

AU - Rodriguez-Gallego, Carlos

AU - Caragol, Isabel

AU - Kutukculer, Necil

AU - Kumararatne, Dinakantha S.

AU - Patel, Smita

AU - Doffinger, Rainer

AU - Exley, Andrew

AU - Jeppsson, Olle

AU - Reichenbach, Janine

AU - Nadal, David

AU - Boyko, Yaryna

AU - Pietrucha, Barbara

AU - Anderson, Suzanne

AU - Levin, Michael

AU - Schandene, Liliane

AU - Schepers, Kinda

AU - Efira, Andre

AU - Mascart, Francoise

AU - Matsuoka, Masao

AU - Sakai, Tatsunori

AU - Siegrist, Claire-Anne

AU - Frecerova, Klara

AU - Blueetters-Sawatzki, Renate

AU - Bernhoeft, Jutta

AU - Freihorst, Joachim

AU - Baumann, Ulrich

AU - Richter, Darko

AU - Haerynck, Filomeen

AU - De Baets, Frans

AU - Novelli, Vas

AU - Lammas, David

AU - Vermylen, Christiane

AU - Tuerlinckx, David

AU - Nieuwhof, Chris

AU - Pac, Malgorzata

AU - Haas, Walther H.

AU - Mueller-Fleckenstein, Ingrid

AU - Fleckenstein, Bernhard

AU - Levy, Jacob

AU - Raj, Revathi

AU - Cohen, Aileen Cleary

AU - Lewis, David B.

AU - Holland, Steven M.

AU - Yang, Kuender D.

AU - Wang, Xiaochuan

AU - Wang, Xiaohong

AU - Jiang, Liping

AU - Yang, Xiqiang

AU - Zhu, Chaomin

AU - Xie, Yuanyuan

AU - Lee, Pamela Pui Wah

AU - Chan, Koon Wing

AU - Chen, Tong-Xin

AU - Castro, Gabriela

AU - Natera, Ivelisse

AU - Codoceo, Ana

AU - King, Alejandra

AU - Bezrodnik, Liliana

AU - Di Giovani, Daniela

AU - Isabel Gaillard, Maria

AU - de Moraes-Vasconcelos, Dewton

AU - Grumach, Anete Sevciovic

AU - da Silva Duarte, Alberto Jose

AU - Aldana, Ruth

AU - Javier Espinosa-Rosales, Francisco

AU - Bejaoui, Mohammed

AU - Bousfiha, Ahmed Aziz

AU - El Baghdadi, Jamila

AU - Ozbek, Namik

AU - Aksu, Guzide

AU - Keser, Melike

AU - Somer, Ayper

AU - Hatipoglu, Nevin

AU - Aydogmus, Cigdem

AU - Asilsoy, Suna

AU - Camcioglu, Yildiz

AU - Gulle, Saniye

AU - Ozgur, Tuba T.

AU - Ozen, Meteran

AU - Oleastro, Matias

AU - Bernasconi, Andrea

AU - Mamishi, Setareh

AU - Parvaneh, Nima

AU - Rosenzweig, Sergio

AU - Barbouche, Ridha

AU - Pedraza, Sigifredo

AU - Lau, Yu Lung

AU - Ehlayel, Mohammad S.

AU - Fieschi, Claire

AU - Abel, Laurent

AU - Sanal, Ozden

AU - Casanova, Jean-Laurent

PY - 2010/11

Y1 - 2010/11

N2 - 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.

AB - 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.

U2 - 10.1097/MD.0b013e3181fdd832

DO - 10.1097/MD.0b013e3181fdd832

M3 - Article

C2 - 21057261

VL - 89

SP - 381

EP - 402

JO - Medicine

JF - Medicine

SN - 0025-7974

IS - 6

ER -