Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

    February 2026 in “ Immunity Inflammation and Disease ”
    Burcu Cil Yilmaz, Sibel Kaplan Sarıkavak, Sezin Naiboğlu, Gülşah Kalay, Erkan Çakmak, Ozge Turkyilmaz Ucar, Selami Ulas, Nermin Kapci, Pinar Gökmirza, Cigdem Aydogmus
    TLDR Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
    This study analyzed 386 patients with inborn errors of immunity (IEI) to assess the prevalence and diagnostic value of cutaneous, ocular, and hair manifestations. It found that 51.3% of patients exhibited these manifestations, with 59.1% present at diagnosis. Infectious skin manifestations were most common (71.8%), particularly in phagocytic and innate immunity defects, while eczema was prevalent in hyper-IgE syndrome (85.8%). Ocular findings appeared in 15.7% of patients, and hair abnormalities, including alopecia areata, were present in 4.04%. These findings suggest that recognizing atypical or treatment-resistant skin, eye, or hair abnormalities can aid in the early diagnosis of IEI, especially in children.
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