ImmunoDeficiency Resource (IDR)

The clinical phenotype of patients with STAT1 deficiency is similar to that of patients with partial IFNgR deficiency. The opportunistic infections constitute the hallmark of inherited IFNγ1-receptor deficiency. Other features of immune dysregulation are asthma, atopy, glomerulonephritis, vasculitis and positive rheumatoid factor. The clinical phenotype of patients with partial IFNgR deficiency is generally mild like that in IL-12R deficiency. One patient with partial recessive IFNgR1 deficiency presented with clinical BCG and Salmonella enteridis infections and the other patient , not vaccinated, had symptomatic tuberculosis. A pathological feature characteristic for IFNγ1-receptor deficiency is the failure to form mature granulomas in response to Mycobacterium.