Finding and Managing Needles in Haystacks: Inborn Errors of Immunity

Conclusions

• Skin manifestations are a common initial sign of inborn errors of immunity, often leading to delayed diagnosis if not recognized early.
• Atopic dermatitis and warts should prompt further investigation for potential inborn errors of immunity when associated with recurrent infections or unusual clinical features.
• Patients with Wiskott-Aldrich syndrome exhibit a classic triad of eczema, thrombocytopenia, and recurrent infections, which can lead to serious complications if not diagnosed promptly.
• Early identification and management of inborn errors of immunity can significantly improve outcomes, including survival rates for those requiring stem cell transplant.
• Dupilumab shows promise as an effective treatment option for skin manifestations in selected patients with inborn errors of immunity, such as Wiskott-Aldrich syndrome.
• Patients with refractory warts may indicate underlying immunodeficiency and should be evaluated for associated infections and systemic issues.
• There are specific clinical clues and guidelines for identifying patients at risk for inborn errors of immunity, especially in cases of atopic dermatitis and dermatological conditions.