Primary Immunodeficiency Clinical Trial
Official title:
Systematic Screening for Primary Immunodeficiencies in Patients Hospitalized for Severe Infections in Intensive Care : DIPREA
Currently about 90 cases of infection in children are reported every year in pediatric intensive care, a disease considered to be the main cause of hospitalization of children. 16% of invasive pneumococcal infections are linked to a genetic abnormality in immunity. Herpetic encephalitis has become a model of genetic infectious disease, with new mutations identified in the TLR3 pathway. Severe infections are no longer the result of chance and can be the way to reveal a primary immune deficiency. In this context, the investigators propose to evaluate the incidence of hereditary immune deficiency after a systematic immunological screening in children admitted for a severe infection in pediatric intensive care unit (ICU).
Severe infection requiring admission in intensive care unit (ICU) are not so rare. A retrospective pilot study conducted at Montpellier University Hospital Center (UHC) between 2013 and 2015 showed that 19.7% of the pediatric ICU admissions were related to a severe infection. An isolated severe infectious episode could be related to a hereditary immune deficiency (HID), even though there are no history of recurrent clinical signs and biological stigmata. For example, Gaschignard and colleagues considered that 16% of the invasive pneumococcal infections are related to a genetic defect of immunity (doi: 10.1093/cid/ciu274). Growing evidence has shown that severe infectious diseases occurring in childhood are attributed to inborn errors of immunity (doi: 10.1073/pnas.1521651112). While the nosology of severe infections has strong links to inherited immune deficiency that are rare diseases affecting less than 1 birth / 5000, there are no prospective studies that assessed the incidence of primary immune deficiencies in children who presented a severe infection. ;
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