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

Autor: Chris Nieuwhof, Yu-Lung Lau, Klara Frecerova, Suzanne T. Anderson, Vas Novelli, Dinakantha S. Kumararatne, Figen Dogu, Matías Oleastro, Barbara Pietrucha, Melike Keser, Xi-qiang Yang, Anete Sevciovic Grumach, Renate Blüetters-Sawatzki, Necil Kutukculer, Lucile Janniere, Sigifredo Pedraza, María Isabel Gaillard, Isabel Caragol, Ruth Aldana, Parisa Adimi, Orchidée Filipe-Santos, Liliane Schandené, Ludovic de Beaucoudrey, Alejandra King, Rainer Doffinger, Sergio D. Rosenzweig, Dewton Moraes-Vasconcelos, Guzide Aksu, Pamela Pui Wah Lee, Abdulaziz Al-Ghonaium, Aurélie Cobat, David Tuerlinckx, Michael Levin, Mohammed Bejaoui, Nevin Hatipoğlu, Kinda Schepers, Francisco J. Espinosa-Rosales, Andrea Bernasconi, Aydan Ikinciogullari, Jacob Levy, Mohammad S. Ehlayel, Małgorzata Pac, Darko Richter, David A. Lammas, David B. Lewis, Janine Reichenbach, Gonul Tanir, Joachim Freihorst, Tuba Turul Ozgur, Sulaiman Al-Ajaji, Masao Matsuoka, Jacqueline Feinberg, Smita Y. Patel, Abdullah A. Alangari, Judith Yancoski, Andrew Exley, Saleh Al-Muhsen, Ridha Barbouche, Tatsunori Sakai, Ana Codoceo, Xiao-Fei Kong, Claire-Anne Siegrist, Jamila El Baghdadi, Bernhard Fleckenstein, Xiaochuan Wang, Sami Al-Hajjar, Ingrid Müller-Fleckenstein, Capucine Picard, Gabriela Castro, Jean-Laurent Casanova, Tong-Xin Chen, Frans De Baets, Namik Ozbek, Alain Fischer, Liliana Bezrodnik, Aileen C. Cohen, Ariane Chapgier, Olle Jeppsson, Imen Ben-Mustapha, Saniye Gülle, Revathi Raj, Françoise Mascart, Arina Samarina, Davood Mansouri, Nima Parvaneh, Yoann Rose, Koon Wing Chan, Yuanyuan Xie, Alberto José da Silva Duarte, Ahmed Aziz Bousfiha, Claire Fieschi, Steven M. Holland, Meteran Ozen, Walther H. Haas, Stéphanie Boisson-Dupuis, Carlos Rodríguez-Gallego, Li-Ping Jiang, Ayper Somer, Suna Asilsoy, André Efira, Yaryna Boyko, Laurent Abel, Setareh Mamishi, Xiaohong Wang, Ulrich Baumann, Filomeen Haerynck, Zobaida Alsum, Kuender D Yang, Jacinta Bustamante, Daniela Di Giovani, Ozden Sanal, Maylis de Suremain, Yildiz Camcioglu, Christiane Vermylen, Ben-Zion Garty, Jutta Bernhöft, Ivelisse Natera, Suliman Al-Jumaah, Chaomin Zhu, David Nadal, Husn H. Frayha, Cigdem Aydogmus
Přispěvatelé: Génétique Humaine des Maladies Infectieuses (Inserm U980), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, Department of Pediatrics, King Faysal Hospital and Research center, Coll Med, Prince Naif Ctr Immunol Res, King Saud University [Riyadh] (KSU), Coll Med, Dept Pediat, IFR Necker-Enfants Malades (IRNEM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique-Hôpitaux de Paris, Service d'Immunologie et d'Hématologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Sami Ulus Children Hlth & Dis Training & Res Ctr, Ankara, Dept Pediat, King Fahad Natl Guard Hosp, Shahid Beheshti University of Medical Sciences, Laboratoire d'immunologie clinique [Institut Pasteur de Tunis], Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Dept Immunol, Juan Pedro Garrahan Natl Hosp Pediat, Schneider Childrens Med Ctr Israel, Hospital Universitario de Gran Canaria Dr Negrin, Immunol Lab, Vall d'Hebron University Hospital [Barcelona], Ege University, Dept Clin Biochem & Immunol, Cambridge University Hospitals NHS Foundation Trust, Addenbrookes Hospital, Inflammat & Immunol Unit, Dept Pathol, Papworth Hosp NHS Fdn Trust, Inflammat & Immunol Unit, Dept Thorac Med, Karolinska University Hospital [Stockholm], Univ Childrens Hosp Zurich, Dept Infect Dis, Lviv Reg Specialized Childrens Hosp, St Marys Hosp, Imperial Coll Sch Med, Childrens Mem Hlth Inst, Immunobiol Clin, Hop Erasme, Université Libre de Bruxelles [Bruxelles] (ULB), Immunodeficiency Dept, Hop Erasme, Lab Vaccinol & Mucosal Immun, Dept Internal Med, Natl Hosp Org Kumamoto Med Ctr, Laboratory of Virus Control, Kyoto University [Kyoto], University of Geneva [Switzerland], Dept Int Relat, Minist Hlth Slovaquie, Dept Pediat Hematol & Oncol, Dept Pediat Pulmonol & Neonatol, Hannover Medical School [Hannover] (MHH), Univ Hosp Ctr Rebro, Dept Pediat Pulmonol & Immunol, Ghent University Hospital, Infect Dis Unit, Great Ormond St Hosp Sick Children, Ctr Immune Regulat, Univ Birmingham, Sch Med, MRC, Cliniques Universitaires Saint-Luc [Bruxelles], Dept Pediat, Mt Godinne Clin, Catholic University Louvain, Dept Internal Med, Div Clin & Expt Immunol, Maastricht University [Maastricht], Dept Infect Dis Epidemiol, Unit Resp Infect, Robert Koch Institute [Berlin] (RKI), Univ Erlangen Nurnberg, Pediatric Department, Ben-Gurion University of the Negev (BGU), Stanford University [Stanford], Lab Clin Infect Dis, NIAID, TMRC, NIH, Bethesda, Dept Pediat Allergy, Chang Gung Childrens Hosp, Dept Clin Immunol, Fudan University [Shanghai], Clin Immunol Lab, Chongqing Medical University, Dept Paediat & Adolescent Med, The University of Hong Kong (HKU), Universidade Federal da Bahia (UFBA), Dept Pediat,Sch Med, Shanghai Jiao Tong University [Shanghai], Univ Hosp Caracas, Hosp Ninos Luis Calvo Mackenna, Childrens Hosp Ricardo Gutierrez Buenos Aires, Dept Dermatol, Lab Invest Dermatol & Immunodeficiencies, Universidade de São Paulo (USP), Dept Pulmonol, Childrens Hosp Federico Gomez, Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico, Natl Ctr Bone Marrow Graft, Tunis, Clinical Immunology Unit, Ibn Rochd Hospital King Hassan II University-Aïn Chok, Genetics Unit, Military Hospital Mohamed V, Baskent universitesi, Dept Pediat Infect Dis & Clin Immunol, Istanbul Univ, Dept Pediat Infect Dis & Immunol, Bakirkoy Matern & Childrens State Hosp, Dr Behcet Uz Children Res & Training Hosp, Department of Pediatrics, Infectious Diseases, Cerrahpacsa Medical School, Hacettepe University = Hacettepe Üniversitesi, Fac Med Malatya, Tehran University of Medical Sciences (TUMS), Dept Biochem, Minist Hlth Mexico, Department of Pediatric and Adolescent Medicine, Hamad medical corporation, Laboratoire d'immunologie, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Çocuk Sağlığı ve Hastalıkları, Ege Üniversitesi, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rockefeller University [New York], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Shahid Beheshti University, Université libre de Bruxelles (ULB), Université Catholique de Louvain = Catholic University of Louvain (UCL), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Stanford University, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Siegrist, Claire-Anne, Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université Paris Descartes - Faculté de Médecine ( UPD5 Médecine ), Université Paris Descartes - Paris 5 ( UPD5 ), King Saud University [Riyadh] ( KSU ), IFR Necker-Enfants Malades ( IRNEM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP), Institut Pasteur de Tunis-Réseau International des Instituts Pasteur ( RIIP ), Université Libre de Bruxelles [Bruxelles] ( ULB ), Hannover Medical School [Hannover] ( MHH ), Robert Koch Institute [Berlin] ( RKI ), Ben-Gurion University of the Negev ( BGU ), The University of Hong Kong ( HKU ), Universidade Federal da Bahia ( UFBA ), Universidade de São Paulo ( USP ), Tehran University of Medical Sciences, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Interne Geneeskunde, RS: CARIM School for Cardiovascular Diseases, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique, UCL - (MGD) Service de pédiatrie
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Male
Proband
[SDV]Life Sciences [q-bio]
Mycobacterium tuberculosis/isolation & purification
Mycobacterium bovis/isolation & purification
Disease
Interleukin-12 Receptor beta 1 Subunit - deficiency
genetics
Cytokines - blood
0302 clinical medicine
Mycobacterium bovis - isolation & purification
Child
0303 health sciences
ddc:618
Interleukin-12 Receptor beta 1 Subunit/*deficiency/genetics
Nontuberculous Mycobacteria/isolation & purification
biology
Age Factors
Nontuberculous Mycobacteria
Mycobacterium Infections
Nontuberculous/epidemiology/genetics
General Medicine
Middle Aged
Mycobacterium bovis
Penetrance
Mycobacteria
Atypical - isolation & purification
3. Good health
Child
Preschool
Cytokines
Female
medicine.symptom
Adult
medicine.medical_specialty
Tuberculosis
Adolescent
Genotype
Mycobacterium Infections
Nontuberculous
Mycobacterium tuberculosis - isolation & purification
Cytokines/blood
Asymptomatic
Article
Mycobacterium tuberculosis
03 medical and health sciences
Internal medicine
General & Internal Medicine
Interleukin-12 Receptor beta 1 Subunit
medicine
Humans
Survival analysis
030304 developmental biology
Mycobacterium Infections
Atypical - epidemiology
genetics
[ SDV ] Life Sciences [q-bio]
business.industry
Infant
Newborn
Infant
biology.organism_classification
medicine.disease
Survival Analysis
Immunology
Nontuberculous mycobacteria
business
030215 immunology
Zdroj: Medicine
Medicine, Lippincott, Williams & Wilkins, 2010, 89 (6), pp.381-402. ⟨10.1097/MD.0b013e3181fdd832⟩
Medicine (Baltimore), Vol. 89, No 6 (2010) pp. 381-402
Medicine, Lippincott, Williams & Wilkins, 2010, 89 (6), pp.381-402. 〈10.1097/MD.0b013e3181fdd832〉
Medicine, 89(6), 381-402. LIPPINCOTT WILLIAMS & WILKINS
Medicine (Baltimore) : analytical reviews of general medicine, neurology, psychiatry, dermatology and pediatrics, Vol. 89, no. 6, p. 381-402 (2010)
ISSN: 0025-7974
1536-5964
DOI: 10.1097/MD.0b013e3181fdd832⟩
Popis: WOS: 000283840300002
PubMed ID: 21057261
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.
Rockefeller University Center for Clinical and Translational Science [5UL1RR024143-03]; Rockefeller University; ANRFrench National Research Agency (ANR); PHRC; EUEuropean Union (EU) [LHSP-CT-2005-018736]; BNP Paribas Foundation; Dana Foundation; March of DimesMarch of Dimes; Fondation pour la Recherche MedicaleFondation pour la Recherche Medicale; Howard Hughes Medical InstituteHoward Hughes Medical Institute
The St. Giles Laboratory of Human Genetics of Infectious Diseases is supported by grants from The Rockefeller University Center for Clinical and Translational Science grant number 5UL1RR024143-03, and The Rockefeller University, ANR, PHRC, EU (LHSP-CT-2005-018736), BNP Paribas Foundation, the Dana Foundation, and the March of Dimes. LDB is supported by the Fondation pour la Recherche Medicale as part of the PhD program of Pierre et Marie Curie University (Paris, France). JLC was an International Scholar of the Howard Hughes Medical Institute.
Databáze: OpenAIRE
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