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

Ludovic Beaucoudrey 1, 2 Arina Samarina 3, 1, 2 Jacinta Bustamante 1, 2 Aurélie Cobat 1, 2 Stephanie Boisson-Dupuis 1, 2, 3 Jacqueline Feinberg 1, 2 Saleh Al-Muhsen 4, 5, 6 Lucile Janniere 1, 2 Yoann Rose 1, 2 Maylis Suremain 1, 2 Xiao-Fei Kong 1, 2, 3 Orchidée Filipe-Santos 1, 2 Ariane Chapgier 1, 2 Capucine Picard 1, 7, 2 Alain Fischer 8, 7, 9, 2 Figen Dogu 10 Aydan Ikinciogullari 10 Gonul Tanir 10 Sami Al-Hajjar 4, 6 Suliman Al-Jumaah 6 Husn H. Frayha 6 Zobaida Alsum Sulaiman Al-Ajaji 11 Abdullah Alangari 4, 5 Abdulaziz Al-Ghonaium 6 Parisa Adimi 12 Davood Mansouri 12 Imen Ben-Mustapha 13 Judith Yancoski 14 Ben-Zion Garty 15 Carlos Rodriguez-Gallego 16 Isabel Caragol 17 Necil Kutukculer 18 Dinakantha S. Kumararatne 19 Smita Patel 19 Rainer Döffinger 19 Andrew Exley 20, 21 Olle Jeppsson 22 Janine Reichenbach 23 David Nadal 24 Yaryna Boyko 25 Suzanne Anderson 26 Barbara Pietrucha 27 Michael Levin 26 Liliane Schandene 28 Kinda Schepers 29 Andre Efira 28 Francoise Mascart 28, 30 Tatsunori Sakai 31 Masao Matsuoka 32 Claire-Anne Siegrist 33 Klara Frecerova 34 Renate Blueetters-Sawatzki 35 Jutta Bernhoeft 36 Joachim Freihorst 37 Ulrich Baumann 37 Darko Richter Filomeen Haerynck 38 Frans de Baets 38 Vas Novelli 39 David Lammas 40 Christiane Vermylen 41 David Tuerlinckx 42 Chris Nieuwhof 43 Malgorzata Pac 27 Walther H. Haas 44 Ingrid Mueller-Fleckenstein 45 Bernhard Fleckenstein 45 Jacob Levy 46 Aileen Cleary Cohen 47 David B. Lewis 47 Steven M. Holland 48 Kuender D. Yang 49 Xiaochuan Wang 50 Xiaohong Wang Revathi Raj Liping Jiang Xiqiang Yang 51 Chaomin Zhu Yuanyuan Xie Pamela Pui Wah Lee 52 Koon Wing Chan 52 Gabriela Castro 53 Tong-Xin Chen 54 Ivelisse Natera 55 Ana Codoceo 56 Alejandra King 56 Liliana Bezrodnik 57 Daniela Di Giovani 57 Maria Isabel Gaillard 57 Dewton Moraes-Vasconcelos 58 Anete Sevciovic Grumach 58 Alberto Jose Silva Duarte 58 Ruth Aldana 59 Francisco Javier Espinosa-Rosales 60 Mohammed Bejaoui 61 Ahmed Aziz Bousfiha 62 Jamila El Baghdadi 63 Namik Ozbek 64 Guzide Aksu 18 Melike Keser 65 Ayper Somer 65 Nevin Hatipoglu 66 Cigdem Aydogmus 66 Suna Asilsoy 67 Yildiz Camcioglu 68 Saniye Gulle 67 Tuba T. Ozgur 69 Meteran Ozen 70 Matias Oleastro 48 Andrea Bernasconi 48 Setareh Mamishi 71 Nima Parvaneh 71 Sergio Rosenzweig 48 Sigifredo Pedraza 72 Mohamed-Ridha Barbouche 13 Yu Lung Lau 73 Mohammad S. Ehlayel 74 Claire Fieschi 1, 75 Laurent Abel 1, 2, 3 Ozden Sanal 69 Jean-Laurent Casanova 1, 76
1 Inserm U980 - Génétique Humaine des Maladies Infectieuses
2 UPD5 Médecine - Université Paris Descartes - Faculté de Médecine
3 St. Giles Laboratory of Human Genetics of Infectious Diseases
4 Department of Pediatrics
5 Coll Med, Prince Naif Ctr Immunol Res
6 Coll Med, Dept Pediat
7 IRNEM - IFR Necker-Enfants Malades
8 Developpement Normal et Pathologique du Système Immunitaire
9 Assistance Publique-Hôpitaux de Paris, Service d'Immunologie et d'Hématologie Pédiatrique
10 Sami Ulus Children Hlth & Dis Training & Res Ctr, Ankara
11 Dept Pediat
12 Shahid Beheshti University of Medical Sciences
13 Laboratoire d'immunologie clinique [Institut Pasteur de Tunis]
14 Dept Immunol
15 Dept Pediat
16 Dept Immunol
17 Immunol Lab
18 Department of Pediatrics
19 Dept Clin Biochem & Immunol
20 Inflammat & Immunol Unit, Dept Pathol
21 Inflammat & Immunol Unit, Dept Thorac Med
22 Karolinska University Hospital [Stockholm]
23 Dept Immunol
24 Dept Infect Dis
25 Lviv Reg Specialized Childrens Hosp
26 Dept Pediat
27 Dept Immunol
28 Immunobiol Clin, Hop Erasme
29 Immunodeficiency Dept, Hop Erasme
30 Lab Vaccinol & Mucosal Immun
31 Dept Internal Med
32 Laboratory of Virus Control
33 Dept Pediat
34 Dept Int Relat
35 Dept Pediat Hematol & Oncol
36 Dept Pediat Pulmonol & Neonatol
37 Dept Pediat
38 Dept Pediat Pulmonol & Immunol
39 Infect Dis Unit
40 Ctr Immune Regulat
41 Dept Pediat Hematol & Oncol
42 Dept Pediat, Mt Godinne Clin
43 Dept Internal Med, Div Clin & Expt Immunol
44 Dept Infect Dis Epidemiol, Unit Resp Infect
45 Univ Erlangen Nurnberg
46 Pediatric Department,
47 Dept Pediat
48 Lab Clin Infect Dis
49 Dept Pediat Allergy
50 Dept Clin Immunol
51 Clin Immunol Lab
52 Dept Paediat & Adolescent Med
53 Dept Immunol
54 Dept Pediat,Sch Med
55 Univ Hosp Caracas
56 Hosp Ninos Luis Calvo Mackenna
57 Dept Immunol
58 Dept Dermatol, Lab Invest Dermatol & Immunodeficiencies
59 Dept Pulmonol
60 Dept Immunol
61 Natl Ctr Bone Marrow Graft, Tunis
62 Clinical Immunology Unit
63 Genetics Unit
64 Dept Pediat
65 Dept Pediat Infect Dis & Clin Immunol
66 Dept Pediat Infect Dis & Immunol
67 Dept Pediat
68 Department of Pediatrics, Infectious Diseases
69 Hacettepe University = Hacettepe Üniversitesi
70 Fac Med Malatya
71 Tehran University of Medical Sciences
72 Dept Biochem
73 Department of Pediatric and Adolescent Medicine
74 Hamad medical corporation
75 Laboratoire d'immunologie
76 Service d'immuno-hématologie pédiatrique [CHU Necker]
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.
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Submitted on : Tuesday, January 10, 2017 - 12:34:03 PM
Last modification on : Friday, May 10, 2019 - 9:52:40 AM

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Ludovic Beaucoudrey, Arina Samarina, Jacinta Bustamante, Aurélie Cobat, Stephanie Boisson-Dupuis, et al.. Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries. Medicine, Lippincott, Williams & Wilkins, 2010, 89 (6), pp.381-402. ⟨10.1097/MD.0b013e3181fdd832⟩. ⟨pasteur-01375300⟩

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