A review of: Dupuis S, Jouanguy E, Al-Hajjar S et al. 2003 Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency. Nat Genet 33:388–391Supported by OTKA T 38095.

Mutations in several disease genes have been identified in patients with primary immunodeficiency diseases (PIDs) over the past decades (1). The impact of the knowledge gained from studies of new PID entities on our understanding of functions of the immune system including host defense mechanisms to infections, is tremendous. One example is the discovery of mutations that impair functions of receptors (R) or cytokines of the interferon (IFN)-γ/interleukin (IL)-12 activation pathway. Deficiencies of IFN-γR1, IFN-γR2, IL-12Rß1, and IL-12p40 are all predisposing patients to infections by weakly virulent mycobacteria (2). IL-12Rß1 and IL12p40 defects also impair IL23 immunity (2).

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