Interleukin-12 (IL-12) p40 deficiency

For all patients known to date, mycobacterial infection has been the principal clinical presentation and none have clinical atopy or serological evidence of sensitization to common aero-allergens or signs of autoimmunity. Generally, patients with IL-12 and IL-12 Receptor deficiencies have mild symptoms, with delayed but good granuloma formation in response to BCG vaccination and impaired granuloma formation following NTM infection. The child with complete IL-12p40 deficiency presented with curable BCG- and Salmonella enteritidis- infections.

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.