Combined immunodeficiencies with associated or syndromic features

Abstract

Combined immunodeficiencies with associated or syndromic features are a heterogeneous group of disorders jointly characterized by immunologic and non-immunologic symptoms. In this text we provide a basic overview of this primary immunodeficiency subgroup, including its internal structure and diagnostic and therapeutic approaches.

The phenotypic and pathophysiological spectrum displayed by patients with syndromic primary immunodeficiencies is then illustrated through more in-depth overview of two particular disorders, the DiGeorge syndrome and the hyper-IgE syndrome, accompanied by three case reports of our patients.

Keywords

• immunodeficiencies with associated or syndromic features
• inborn errors of the immunity
• primary immunodeficiency
• diGeorge syndrome
• hyper-IgE syndrome
• thymus