Problemi speciali
Difetti immunitari non convenzionali in pazienti con infezione grave
Non-conventional immune deficiencies in patients with life-threatening infection
A. Marzollo, J. Bustamante, M.C. Putti, M. Stronati, M. Bendavid, J-L. Casanova, G. Basso, A. Borghesi
Ottobre 2017 - pagg. 503 -510
Abstract
Severe infectious disease in an otherwise healthy child is often perceived as a sporadic
event with no genetic cause. Recent data challenge this assumption showing that a
mutation in genes involved in host defence can be found in a significant proportion of patients.
Some patients may present a classical primary immunodeficiency, either cellular
or humoral; others may have a non-conventional primary immunodeficiency resulting in
an impairment of the immune system predisposing them to a narrow spectrum of infectious
manifestations. Atypical mycobacterial disease and isolated Chronic Mucocutaneous
Candidiasis can be due to defects in IFN-γ or IL-17 respectively. Defects in the production
or response of type I and III interferons can underlie Herpes Simplex encephalitis and severe
Influenza virus infection. The pathogenesis of invasive pyogenic bacteria disease is
more diverse, including complement deficiencies and deficits in the Nuclear Factor kappa
B (NF-kB) pathway. The diagnosis of primary immunodeficiency may have a huge impact
on treatment and prevention of complications for affected patients and their relatives. Moreover,
the dissection of these molecular pathways gives clues about the non-redundant
mechanism of immune defence against a specific infectious agent
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Corrispondenza: antonio.marzollo@unipd.it