TY - JOUR
T1 - Revisiting human IL-12Rβ1 deficiency
T2 - A survey of 141 patients from 30 countries
AU - A Survey of 141 Patients From 30 Countries
AU - De Beaucoudrey, Ludovic
AU - Samarina, Arina
AU - Bustamante, Jacinta
AU - Cobat, Aurélie
AU - Boisson-Dupuis, Stéphanie
AU - Feinberg, Jacqueline
AU - Al-Muhsen, Saleh
AU - Jannière, Lucile
AU - Rose, Yoann
AU - De Suremain, Maylis
AU - Kong, Xiao Fei
AU - Filipe-Santos, Orchidée
AU - Chapgier, Ariane
AU - Picard, Capucine
AU - Fischer, Alain
AU - Dogu, Figen
AU - Ikinciogullari, Aydan
AU - Tanir, Gonul
AU - Al-Hajjar, Sami
AU - Al-Jumaah, Suliman
AU - Frayha, Husn H.
AU - Alsum, Zobaida
AU - Al-Ajaji, Sulaiman
AU - Alangari, Abdullah
AU - Al-Ghonaium, Abdulaziz
AU - Adimi, Parisa
AU - Mansouri, Davood
AU - Ben-Mustapha, Imen
AU - Yancoski, Judith
AU - Garty, Ben Zion
AU - Rodriguez-Gallego, Carlos
AU - Caragol, Isabel
AU - Kutukculer, Necil
AU - Kumararatne, Dinakantha S.
AU - Patel, Smita
AU - Doffinger, Rainer
AU - Exley, Andrew
AU - Jeppsson, Olle
AU - Reichenbach, Janine
AU - Nadal, David
AU - Boyko, Yaryna
AU - Pietrucha, Barbara
AU - Anderson, Suzanne
AU - Levin, Michael
AU - Schandené, Liliane
AU - Schepers, Kinda
AU - Efira, André
AU - Mascart, Françoise
AU - Matsuoka, Masao
AU - Levy, Jacob
PY - 2010/11/1
Y1 - 2010/11/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=78649351360&partnerID=8YFLogxK
U2 - 10.1097/MD.0b013e3181fdd832
DO - 10.1097/MD.0b013e3181fdd832
M3 - Review article
C2 - 21057261
AN - SCOPUS:78649351360
SN - 0025-7974
VL - 89
SP - 381
EP - 402
JO - Medicine (United States)
JF - Medicine (United States)
IS - 6
ER -