ArticleMedicine2010
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
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Article in Medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 226 papers, 4 of them syntheses that pooled it.
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226citing papers in PubMed, 4 pooled it
11.1field-weighted citation impact, top 1% of its field
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Who cites it
226 citing papers in PubMed, 4 syntheses or guidelines pooled it, 380 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.Frontiers in public health · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Nocardiosis Associated with Primary Immunodeficiencies (Nocar-DIP): an International Retrospective Study and Literature Review.Journal of clinical immunology · 2020Pooled it
- Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.Immunologic research · 2019Trial
- Mediastinal lymphadenitis caused by Mycobacterium avium complex in children: a rare case of airway compression.European journal of pediatrics · 2026Article
- Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum.World journal of clinical pediatrics · 2026Review
- Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.The Journal of experimental medicine · 2026Article
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- Review
- Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.Journal of clinical immunology · 2026Article
- Characteristics of Mycobacterial, COVID-19, and Talaromyces Marneffei Infections in Patients with IL12RB1 and IFNGR1 Mutations in Western China.Journal of clinical immunology · 2026Article
- IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2026Article
- Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.Journal of human immunity · 2026Article
- A State of the Art Review on the Recalcitrant Candidiasis as a Clue of Inborn Errors of Immunity in Newborns.Journal of immunology research · 2026Review
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.Journal of clinical immunology · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Review
166 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
122 authors at 1 institution in 2 countries.
Ludovic de BeaucoudreyFrom Laboratory of Human Genetics of Infectious Diseases U980 (LDB, A. Samarina, J. Bustamante, A. Cobat, SBD, J. Feinberg, L. Jannière, YR, MDS, XFK, OFS, A. Chapgier, CP, LA, JLC) and Laboratory of Normal and Pathologic Development of the Immune System U768 (AF), Institut National de la Santé et de la Recherche Médicale, Paris, France; University Paris Descartes (LDB, A. Samarina, J. Bustamante, A. Cobat, SBD, J. Feinberg, L. Jannière, YR, MDS, XFK, OFS, A. Chapgier, CP, AF, LA, JLC), Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases (A. Samarina, SBD, XFK, LA, JLC), The Rockefeller University, New York, New York; Prince Naif Center for Immunology Research (SAM, SAH, ZAS, AA, JLC) and Department of Pediatrics (SAM, ZAS, AA), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics (SAM, SAH, SAJ, HHF, AAG), King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Study Center of Primary Immunodeficiencies (CP) and Pediatric Hematology-Immunology Unit (AF, JLC), Necker Hospital, AP-HP, Paris, France; Department of Pediatric Allergy and Immunology (FD, AI), Ankara University School of Medicine, Ankara, Turkey; Dr Sami Ulus Children Health and Diseases Training and Research Center (GT), Ankara, Turkey; Department of Pediatrics (SAA), King Abdulaziz Medical City, King Fahad National Guard Hospital, Riyadh, Saudi Arabia; Division of Infectious Diseases and Clinical Immunology (PA, DM), National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Teheran, Iran; Laboratory of Cytoimmunology (IBM, RB), Pasteur Institut of Tunis, Tunis-Belvédère, Tunisia; Department of Immunology (JY, M. Oleastro, AB), Juan-Pedro Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina; Department of Pediatrics (BZG), Schneider Children's Medical Center of Israel, Petah Tiqva, Israel; Department of Immunology (CRG), Gran Canaria Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain; Laboratory of Immunology (IC), Vall d'Hebron Hospital, Barcelona, Spain; Department of Pediatrics (NK, GA), Ege University Medical School, Izmir, Turkey; Department of Clinical Biochemistry and Immunology (DSK, S. Patel, RD), Addenbrookes Hospital, Cambridge, United Kingdom; Immunology Laboratory and Respiratory Infection, Inflammation and Immunology Unit, Departments of Pathology and Thoracic Medicine (A. Exley), Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom; Astrid Lindgren Childrens Hospital Karolinska University Hospital (OJ), Huddinge, Sweden; Department of Immunology (JR) and Department of Infectious Diseases (DN), University Children's Hospital of Zurich, Zurich, Switzerland; Lviv Regional Specialized Children's Hospital (YB), Lviv, Ukraine; Department of Immunology (BP, MP), Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics (S. Anderson, ML), Imperial College School of Medicine, St Mary's Hospital, London, United Kingdom; Immunobiology Clinic (LS, A. Efira, FM) and Immunodeficiency Department (KS), Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium; Laboratory of Vaccinology and Mucosal Immunity (FM), Université Libre de Bruxelles, Brussels, Belgium; Laboratory of Virus Control (MM), Institute for Virus Research, Kyoto University, Kyoto, Japan; Department of Internal Medicine (TS), National Hospital Organization Kumamoto Medical Center, Kumamoto, Japan; Department of Pediatrics (CAS), University of Geneva, Geneva, Switzerland; Department of International Relations (KF), Ministry of Health, Bratislava, Slovak Republic; Department of Pediatric Hematology and Oncology (RBS), Giessen, Germany; Department of Pediatric Pulmonology and Neonatology (J. Bernhöft), Hannover Medical School, Hannover, Germany; Department of Pediatrics (J. Freihorst, UB), University Hospital Center-Rebro, Zagreb, Croatia; Department of Pediatric Pulmonology and Immunology (FH, FDB), University Hospital Ghent, Ghent, Belgium; Infectious Diseases Unit (VN), Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; MRC Center for Immune Regulation (DL), The Medical School, University of Birmingham, Birmingham, United Kingdom; Department of Pediatric Hematology and Oncology (CV), Cliniques Universitaires Saint Luc et Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (DT), Mont-Godinne Clinics, Université Catholique de Louvain, Brussels, Belgium; Department of Internal Medicine/Division of Clinical and Experimental Immunology (CN), Maastricht University Medical Centre, Maastricht, The Netherlands; Unit for Respiratory Infections, Department of Infectious Disease Epidemiology (WHH), Robert Koch Institute, Berlin, Germany; Institut für Klinische und Molekulare Virologie (IMF, BF), Universität Erlangen-Nürnberg, Germany; Pediatric Department (JL), Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel; Department of Pediatric Hematology (RR), Apollo Speciality Hospitals, Chennai, India; Department of Pediatrics (ACC, DBL), Stanford University School of Medicine, Stanford, California; Laboratory of Clinical Infectious Diseases (SMH) and Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (SR), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; Department of Pediatric Allergy (KDY), Immunology and Rheumatology and Department of Medical Research, Chang Gung Children's Hospital, and Chang Gung University, Kaohsiung, Taiwan; Department of Clinical Immunology (Xiaochuan Wang), Children's Hospital of Fudan University, Shanghai, China; Clinical Immunology Laboratory (Xiqiang Yang), Children's Hospital of Chongqing Medical University, Chongqing, China; Department of Paediatrics and Adolescent Medicine (PPWL, KWC, YLL), Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong SAR, China; Department of Pediatrics (TXC), Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Immunology (GC), Federal University of Bahia, Brazil; University Hospital of Caracas (IN), Caracas, Venezuela; Luis Calvo Mackenna Hospital (A. Codoceo, AK), Santiago, Chile; Department of Immunology (LB, DDG, MIG), Ricardo Gutiérrez Children Hospital, Buenos Aires, Argentina; Laboratory of Investigation in Dermatology and Immunodeficiencies, Department of Dermatology (DDMV, ASG, AJDSD), University of São Paulo Medical School, São Paulo, Brazil; Department of Pulmonology (RA), Children's Hospital Federico Gomez, Mexico City, Mexico; Department of Immunology (FJER), National Institute of Pediatrics, Mexico City, Mexico; National Center of Bone Marrow Graft (MB), Tunis, Tunisia; Clinical Immunology Unit (AAB), Ibn-Rochd Hospital, Casablanca, Morocco; Laboratory of Immunology (JEB), Military Hospital Mohamed V, Hay Riad Rabat, Morocco; Department of Pediatrics (NÖ), Baskent University School of Medicine, Ankara, Turkey; Department of Pediatric Infectious Diseases and Clinical Immunology (MK, A. Somer), Istanbul University Faculty of Medicine, Istanbul, Turkey; Department of Pediatric Infectious Diseases and Immunology (NH, CA), Bakirkoy Maternity and Children's State Hospital, Istanbul, Turkey; Department of Pediatrics (S. Asilsoy, SG), Dr Behçet Uz Children Research and Training Hospital,Izmir, Turkey; Department of Pediatrics, Infectious Diseases, Clinical Immunology and Allergy Division (YC), Cerrahpaşa Medical School, Istanbul University, Cerrahpaşa, Istanbul, Turkey; Immunology Division (TTO, OS), Hacettepe University Children's Hospital, Ankara, Turkey; Division of Pediatric Infectious Disease (M. Ozen), Faculty of Medicine, Inonu University, Malatya, Turkey; Department of Pediatrics (SM, NP), Infectious Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Biochemistry (S. Pedraza), INCMNSZ, Ministry of Health, Mexico City, Mexico; Section of Allergy-Immunology, Department of Pediatrics (MSE), Hamad Medical Corporation, Doha, Qatar; and Adult Immunopathology Unit (CF), Saint-Louis Hospital, AP-HP, Paris, France.
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
Jean-Laurent Casanova
Université Paris Cité · FR
Funding
TRANSFORMING TRANSLATIONAL SCIENCE AND EDUCATION TO BENEFIT HUMAN HEALTHUL1RR024143 · NCRR · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2006 to 2011
$49.1MStudies of Inherited Causes of Fungal SusceptabilityZIAAI001122 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI ROSENZWEIG, SERGIO · 2010 to 2025
$26.0MGenes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MHoward Hughes Medical InstituteNCRR NIH HHS 5UL1RR024143-03NCRR NIH HHS UL1 RR024143NIAID NIH HHS R01 AI089970
Abstract
Interleukin-12 receptor β1 (IL-12Rβ1) 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-Guérin (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-12Rβ1 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.
Indexed as
AdolescentAdultAge FactorsChildChild, PreschoolCytokinesFemaleGenotypeHumansInfantInfant, NewbornInterleukin-12 Receptor beta 1 SubunitMaleMiddle AgedMycobacterium bovisMycobacterium Infections, NontuberculousCytokinesInterleukin-12 Receptor beta 1 Subunit
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