IL-12 receptor deficiency is a well-characterized primary immunodeficiency that leads to infections mainly with mycobacteria and Salmonella. The aim of the study is to report manifestations and causes of vasculitis complicating IL-12 receptor deficiency.
This is a retrospective study including patients with IL-12 receptor deficiency who developed vasculitis during a follow up of 10 years.
Among 14 children affected by IL-12 receptor deficiency, three have developed vasculitis. They were two boys and one girl. Vasculitis was diagnosed at the age of 8 months, 22 years and 3 years, respectively. Edema and purpuric eruptions were present on the lower extremities in three patients. One patient had acute ischemia by thrombosis of the left humeral artery. Skin biopsy showed leukocytoclastic vasculitis. Serologic tests for vasculitis (rheumatoid factor, antinuclear antibody, and antineutrophil cytoplasmic antibodies were negative in all cases. Infectious tests revealed Salmonella Enteritidis in blood and stool cultures of two patients. In these two cases, the successful treatment of septicemia using antibiotics was accompanied by the disappearance of Vasculitis. Vasculitis relapsed in one patient in the same territory, concomitant with a recurrent Salmonella sepsis. Limb amputation was performed in another patient after the failure of the discharge with aponeurotomy.
Clinicians should be aware of possible infectious causes of vasculitis in IL-12 receptor deficiency patients. Patients should be first tested for specific Salmonella infection. In addition, autoimmunity was also reported as a possible cause of vasculitis in these patients.