Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
L De Beaucoudrey, A Samarina, J Bustamante… - Medicine, 2010 - journals.lww.com
Interleukin-12 receptor A1 (IL-12RA1) 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 …
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 …