Skin involvement is among the leading findings in children with inborn errors of immunity

OpenAlex · English

BACKGROUND: Primary immunodeficiency diseases (PID) or inborn errors of immunity are a group of inherited disorders characterized by defects in components of innate and/or adaptive immunity. Cutaneous manifestations are common in PIDs. The skin signs are often the initial symptoms which help in the diagnosis. Warning signs that might suggest primary immunodeficiencies primarily focus solely on infectious skin disorders. METHODS: In a retrospective analysis, our study included patients below the age of 18 who were assessed for an IEI diagnosis from 2011 to 2024. The demographical, clinical, immunological, dermatological and molecular features of patients were obtained from medical records. A total of 111 patients with a confirmed IEI diagnosis were analyzed, among whom 55.9% were male. RESULTS: 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 AD (10.9%). CONCLUSION: Based on the findings of this study and related research, we propose that warning signs include noninfectious cutaneous disorders, particularly atopic and IEI-specific skin conditions. Therefore, the acknowledgment of cutaneous manifestations by dermatologists and pediatricians as potential indicators of inborn errors of immunity (IEI) could substantially enhance the timely identification and management of severe IEI cases.