Identificador persistente para citar o vincular este elemento: 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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