Ottobre 2017 - Volume XXXVI - numero 8
Problemi speciali
1UOC di Oncoematologia Pediatrica, Università di Padova; 2St. Giles Laboratory of Human Genetics of Infectious Distasse, Rockefeller Branch, The Rockefeller University, New York, USA; 3Laboratory of Human Genetics of Infectious Distasse, Necker Hospital for Sick Children, Paris, France; 4Paris Descartes University, Imagine Institute, Paris, France: 5Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris AP-HP, Necker-Enfants Malades Hospital, Paris, France; 6Neonatologia, Patologia Neonatale e Terapia Intensiva, Fondazione IRCCS Policlinico “San Matteo”, Pavia; 7Pediatric Immunology-Hematology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France; 8Howard Hughes Medical Institute, The Rockefeller University, New York, USA; 9Fellay Lab, School of Life Sciences, École Polytechnique Fédérale de Lausanne, Switzerland
Indirizzo per corrispondenza: antonio.marzollo@unipd.it
Key words: Monogenic inborn errors of immunity, Life-threatening infection, Innate immunity
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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