Abstract:

Objective: To investigate the infectious and skin manifestations of four common primary immunodeficiency diseases (PID) for helping the dermatologists to identify and diagnose these four PID diseases. Methods: A retrospective analysis was performed on 87 patients with PID diagnosed in our hospital from January 2003 to July 2016. Among them, 36 patients were diagnosed as chronic granulomatous disease (CGD), 14 patients as hyper-IgE syndrome (HIES), 22 patients as severe combined immunodeficiency (SCID), and 15 patients as Wiskott-Aldrich syndrome (WAS). Results: A total of 87 patients were diagnosed as PID by clinical and genetic diagnosis, including 79 males and 8 females. The main clinical infections were pneumonia (82.76%), organ abscess (52.87%), gastrointestinal tract infection (48.28%), thrush (26.44%), sepsis (25.29%) and EBV or CMV infection (6.90%). The main skin manifestations were skin infections (51.72%), including bacterial infections (42.53%), fungal infections (32.18%). Skin manifestations also included eczematous lesions (42.53%), skin purpura (17.24%) and other characteristic manifestations. Repeated skin bacterial infections were observed in CGD patients early; atopic dermatitis and skin infections in early postnatal period were the main manifestations in HIES patients; opportunistic infections of skin and mucosa were common in SCID patients; skin purpura and ecchymosis and eczema were often seen in WAS patients. Conclusions: Infection is a common feature of PIDs. Skin infection is an important clinical manifestation for early recognition of immunodeficiency, which should be evaluated by dermatologists.

Key words: Primary immunodeficiency diseases, Chronic granulomatous disease, Hyper-IgE syndrome, Severe combined immunodeficiency, Wiskott-Aldrich syndrome, Infections, Skin manifestations