Common variable immunodeficiency disorders – diseases with many faces

Common variable immunodeficiency disorders (CVID) are the most frequent symptomatic primary immunodeficiency condition in children and adults. The main problem of patients suffering from this disorder is the variety of clinical symptoms, which delays the diagnosis and thus institution of appropriate treatment. The authors present varied medical signs that may suggest CVID and diagnostic methods that can facilitate the final diagnosis.

CVID can manifest with various phenotypes: infectious, autoimmune, lymphoproliferative, and neoplastic. CVID is the most common compilation of all four clinical pictures. The basic examinations can be made in a Primary Care Physician Clinic: complete blood count with blood smear, proteinogram gammaglobulin levels, and concentration of immunoglobulins in the main classes. The epigenetic factors and genetic studies have become increasingly important due to the variety of clinical manifestations. These examinations speed up the final diagnosis.

The treatment of CVID is based on the intravenous or subcutaneous substitution of immunoglobulins.

Antibiotics, immunosuppressive and biological treatment, and even bone morrow stem cell transplantation are sometimes required.

Due to diagnostic difficulties, the diagnosis of CVID is delayed. The patients often need medical and multi-specialist assistance without obtaining a definitive diagnosis. Meanwhile early diagnosis will allow appropriate therapy and will protect the patients against complications.