| Main clinical features
|
periodic fever and skin rash , splenomegaly, congenital malformations (incl. facial dysmorphism)
elevated inflammatory markers and microcytic anemia
typical severe combined immunodeficiency (SCID) lacking T cells altogether and present during early infancy with recurrent opportunistic infections and failure to thrive
histological examination of the skin indicated a flattened epidermis with vacuolization of the basal epidermal layer
immunohistochemistry demonstrated an empty lamina propria with lack of plasma cells, low T cell numbers, and absence of B lymphocytes, consistent with an immunodeficiency-related enteropathy |