Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity

Area of Science:

• Immunology
• Dermatology
• Genetics

Background:

• Cutaneous manifestations are common initial signs in patients with inborn errors of immunity (IEI).
• Early recognition of skin symptoms can be crucial for timely IEI diagnosis.
• Understanding the link between specific IEI types and skin conditions is vital for patient management.

Purpose of the Study:

• To investigate the prevalence and characteristics of cutaneous manifestations in Iranian patients with monogenic IEI.
• To analyze the association between skin conditions and different IEI phenotypic classifications.
• To explore the impact of cutaneous involvement on diagnosis timing and patient prognosis.

Main Methods:

• Retrospective analysis of 521 monogenic IEI patients from the Iranian IEI registry (up to November 2022).
• Extraction of demographic data, clinical history of skin manifestations, and immunological evaluations.
• Categorization of patients based on International Union of Immunological Societies phenotypic classifications.

Main Results:

• Nearly 44% of patients exhibited cutaneous manifestations, with 40.7% presenting these as initial symptoms.
• Patients with skin involvement were older at diagnosis (median 5.0 vs. 3.0 years). Consanguinity was higher (81.4% vs. 65.2%).
• Specific skin conditions correlated with IEI types: atopic dermatitis in phagocyte defects, eczema in combined immunodeficiencies, and autoimmune features (alopecia, psoriasis) in immune dysregulation.

Conclusions:

• Cutaneous manifestations are frequent in Iranian IEI patients, often preceding diagnosis and potentially causing delays.
• The type of skin manifestation varies significantly across different IEI phenotypic groups.
• Autoimmune cutaneous features may be associated with a milder prognosis in IEI patients.