Interleukin-12 receptor β1 deficiency

Patients with IL-12 and IL-12 Receptor deficiencies have mild symptoms, with delayed but good granuloma in response to BCG vaccination and impaired granuloma formation following NTM infection. Patients with complete IL-12Rb1 deficiencies presented with curable BCG infection upon vaccination and NTM infections after the age of three years. In one patient, the infection was fatal. The sister of one of the patients with BCG infection was resistant to three inoculations of BCG, but developed abdominal tuberculosis at the age of 18. In IL-12Rg1 deficiency there is a phenotypic heterogeneity for a given genotype.

Diagnostic laboratories



Therapeutic options

  • Antibiotic therapy based on the susceptibilities of the mycobacterial species. Antimycobacterial therapy may have to be continued for extended periods and suplementary measures like drainage of the pus, attention to nutrition and growth can also be requiered. For those who not respond well to antibiotic treatment , additional IFNg therapy is effective.