Cutaneous findings in Inborn Errors of Immunity: An immunologist`s perspective.

Abstract

Cutaneous manifestations are common in patients with inborn errors of immunity (IEI)/primary immunodeficiency (PID) and could be due to infections, immune dysregulation, or lymphoproliferative/malign diseases. Immunologists accept some as warning signs for underlying inborn errors of immunity. Herein, we include noninfectious/infectious cutaneous manifestations that we come across in rare IEI cases in our clinic and provide a comprehensive literature review. For several skin diseases, the diagnosis is challenging and differential diagnosis is necessary. Detailed disease history and examination play a vital role in reaching a diagnosis, especially if there is a potential underlying IEI. A skin biopsy is sometimes necessary, especially if we need to rule out inflammatory, infectious, lymphoproliferative, and malignant conditions. Specific and immunohistochemical stainings are particularly important when diagnosing granuloma, amyloidosis, malignancies, and infections like HHV6, HHV8, HPV, and orf. Elucidation of mechanisms of IEIs has improved our understanding of their relation to cutaneous findings. In challenging cases, the immunological evaluation may lead the approach when there is a specific PID diagnosis or at least help to reduce the number of differential diagnoses. On the other hand, the response to therapy may provide conclusive evidence for some conditions. This review will raise awareness of concomitant lesions and expand the scope of the differential diagnosis of IEI and the spectrum of skin disease therapy by highlighting frequent forms of IEI-associated cutaneous manifestations. The manifestations given here will guide clinicians to plan for alternative use of diverse therapeutics in a multidisciplinary way for skin diseases.