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http://hdl.handle.net/10553/48628
Título: | Revisiting human IL-12Rβ1 deficiency: A survey of 141 patients from 30 countries | Autores/as: | De Beaucoudrey, Ludovic Samarina, Arina Bustamante, Jacinta Cobat, Aurélie Boisson-Dupuis, Stéphanie Feinberg, Jacqueline Al-Muhsen, Saleh Jannière, Lucile Rose, Yoann De Suremain, Maylis Kong, Xiao Fei Filipe-Santos, Orchidée Chapgier, Ariane Picard, Capucine Fischer, Alain Dogu, Figen Ikinciogullari, Aydan Tanir, Gonul Al-Hajjar, Sami Al-Jumaah, Suliman Frayha, Husn H. Alsum, Zobaida Al-Ajaji, Sulaiman Alangari, Abdullah Al-Ghonaium, Abdulaziz Adimi, Parisa Mansouri, Davood Ben-Mustapha, Imen Yancoski, Judith Garty, Ben Zion Rodriguez-Gallego, Carlos Caragol, Isabel Kutukculer, Necil Kumararatne, Dinakantha S. Patel, Smita Doffinger, Rainer Exley, Andrew Jeppsson, Olle Reichenbach, Janine Nadal, David Boyko, Yaryna Pietrucha, Barbara Anderson, Suzanne Levin, Michael Schandené, Liliane Schepers, Kinda Efira, André Mascart, Françoise Matsuoka, Masao Sakai, Tatsunori Siegrist, Claire Anne Frecerova, Klara Blüetters-Sawatzki, Renate Bernhöft, Jutta Freihorst, Joachim Baumann, Ulrich Richter, Darko Haerynck, Filomeen De Baets, Frans Novelli, Vas Lammas, David Vermylen, Christiane Tuerlinckx, David Nieuwhof, Chris Pac, Malgorzata Haas, Walther H. Müller-Fleckenstein, Ingrid Fleckenstein, Bernhard Levy, Jacob Raj, Revathi Cohen, Aileen Cleary Lewis, David B. Holland, Steven M. Yang, Kuender D. Wang, Xiaochuan Wang, Xiaohong |
Clasificación UNESCO: | 32 Ciencias médicas 3205 Medicina interna |
Palabras clave: | Interleukin-12 Mycobacterium Nontuberculous Mycobacteria |
Fecha de publicación: | 2010 | Publicación seriada: | Medicine | Resumen: | 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. | URI: | http://hdl.handle.net/10553/48628 | ISSN: | 0025-7974 | DOI: | 10.1097/MD.0b013e3181fdd832 | Fuente: | Medicine[ISSN 0025-7974],v. 89, p. 381-402 |
Colección: | Reseña |
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