IFNγ2-receptor deficiency

Patients with complete IFNgR1 or IFNgR2 have a severe form of the syndrome, with BCG infection after immunization and early onset NTM infection. Also lepromatous-like lesions, in response to BCG vaccination, were observed and are suggestive. The clinical phenotype of patients with partial IFNgR deficiency is generally mild like that in IL-12R deficiency. The patient with partial recessive IFNgR2 deficiency had a history of BCG and Mycobacterium abcessus infections.

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.