Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency Medical and Immunological Implications

摘要: The clinical phenotype of interleukin 12 receptor beta1 chain (IL-12Rbeta1) deficiency and the function human IL-12 in host defense remain largely unknown, due to small number patients reported. We now report 41 with complete IL-12Rbeta1 from 17 countries. only opportunistic infections observed, 34 patients, were childhood onset caused by weakly virulent Salmonella or Mycobacteria (Bacille Calmette-Guerin -BCG- environmental Mycobacteria). Three had tuberculosis, one whom also salmonellosis. Unlike salmonellosis, mycobacterial did not recur. BCG inoculation disease both effective against subsequent mycobacteriosis, but Excluding probands, seven affected siblings have remained free case-definition infection. Finally, five deaths occurred childhood, remaining 36 are alive well. Thus, a diagnosis should be considered children mycobacteriosis salmonellosis; healthy probands selected cases tuberculosis investigated. overall prognosis is good broad resistance infection low penetrance favorable outcome infections. Unexpectedly, redundant protective immunity most microorganisms other than Salmonella. Moreover, for primary many individuals secondary most.