Problemi speciali
Manifestazioni dell’infezione da virus di Epstein-Barr nel paziente con immunodeficit
Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients
Fiammetta Zunica1, Francesco Saettini2, Andrea Biondi2, Raffaele Badolato1
1Clinica Pediatrica, Universitŕ di Brescia
2Clinica Pediatrica, Universitŕ di Milano-Bicocca
Marzo 2019 - pagg. 163 -169
Abstract
Recurrent respiratory infections are frequent in healthy children. The association with peculiar
signs and symptoms such as splenomegaly, lymphopenia, and hypogammaglobulinemia
should induce suspicion of primary immunodeficiency (PID). The described case
is an example of early detection of PID due to heterozygous gain of function mutation of
the gene coding for p110 PI3K subunit responsible for APDS (activation PI3 kinase
delta syndrome). Recently recognized, APDS is a combined immunodeficiency characterised
by recurrent pulmonary infections, CMV and EBV viremia and lymphadenopathy.
The typical immunological pattern of this syndrome is: hypogammaglobulinemia characterised
by altered levels of IgM (more often increased but sometimes normal or decreased
levels have been reported) associated with reduction in IgG and IgA levels; altered
distribution of the T cell subsets (CD4+ lymphopoenia) and anomalous compartment
B (expansion of transitional B cells and reduction in memory B cells). In the reported
case, although the patient presented with an incomplete phenotype, early diagnosis
was guided by the immuno-disregulation red flags (splenomegaly, chronic EBV viremia
and persistent otorrhea) and therapy was promptly instituted in order to reduce the onset
of long-term complications.
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Classificazione MeSH
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Corrispondenza: raffaele.badolato@unibs.it