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

Ludovic De 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 De 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 De Moraes-Vasconcelos ⁵⁸ Anete Sevciovic Grumach ⁵⁸ Alberto Jose Da 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 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]

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 FAU - Friedrich-Alexander Universität Erlangen-Nürnberg

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 TUMS - 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.

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Complete list of metadata

https://hal-riip.archives-ouvertes.fr/pasteur-01375300
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Submitted on : Tuesday, January 10, 2017 - 12:34:03 PM
Last modification on : Friday, November 4, 2022 - 6:52:06 PM