D3.247 - Skin Involvement Is One Of The Common Signs In Children With Inborn Errors Of Immunity

Inborn errors of immunity (IEI), formerly known as Primary immunodeficiency diseases (PID), are a group of inherited disorders characterized by defects in components of innate and/or adaptive immunity. The skin signs often may be the initial symptoms which help in the diagnosis. Warning signs that might suggest a primary immunodeficiencies primarily focus solely on infectious skin disorders. We aimed to investigate the occurrence and properties of such dermatological findings in pediatric populations with IEIs.

The study included a total 111 patients diagnosed with IEI according to the International Union of Immunological Societies (IUIS) 2024 criteria, and followed up in Selçuk University Faculty of Medicine from 2011 to 2024. Of these, 55.9% were male and under 18 years old who followed at least one year. Patients with transient hypogammaglobulinemia of infancy and autoinflammatory diseases were excluded from this study.

The median age at admission was 48 months (IQR: 10–120). Parental consanguinity was observed in 36.9% of the patients. The distribution of patients included those with predominantly antibody deficiencies (n=40, 36%), syndromic combined immunodeficiency (n=33, 29.7%), immunodeficiencies affecting cellular and humoral immunity (n=15, 13.5%), congenital defects of phagocyte number and functions (n=11, 9.9%), and immune dysregulation disorders (n=9, 8.1%). Forty-two patients (37.8%) exhibited cutaneous manifestations, whereas 17 patients (15.3%) presented with multiple cutaneous lesions. A total of 38 patients, which constitutes 34.2% of the entire patient population with IEIs and represents 90.4% of those patients exhibiting skin lesions, were identified as having skin lesions among the initial signs presented during their first medical evaluations. Infectious skin findings were the most prevalent (36.4%), succeeded by pigmentation disorders (14.5%) and atopic dermatitis (10.9%).

This study showed that warning signs also should include noninfectious cutaneous disorders, particularly atopic and IEI-specific skin conditions. The recognition of specific or nonspecific dermatological symptoms linked to IEI is critical, as it points to a possible underlying potential indicators of IEI.