Association of Serum Melanin with Immunoglobulin Levels and CD4 Count in Individuals with Oculocutaneous, Cutaneous and Ocular Albinism

Abstract

Introduction: The immune system plays a crucial role in defending the body against infections, autoimmune diseases, and malignancies. Individuals with albinism, characterised by melanin deficiency, may exhibit altered immune responses due to the potential immune modulatory role of melanin. Aim: This study is designed to evaluate the association of serum melanin level with some immunoglobulin levels and CD4 count in individuals with oculo-cutaneous, cutaneous, and ocular albinism in South-eastern Nigeria. Methods: A total of 300 individuals with albinism—100 with oculocutaneous albinism (OCA), 100 with cutaneous albinism (CA), and 100 with ocular albinism (OA)—participated in this study. They were age-matched with 100 controls. An 8 ml venous blood sample was collected from each participant. Serum melanin level and immunoglobulin (IgG, IgA, IgM and IgE) levels were determined using ELISA techniques, while CD4 count was determined using the Flow cytometry technique. The data generated were subjected to statistical analysis using IBM SPSS version 23. Results: There were significantly lower serum levels of melanin and CD4 count, but significantly higher serum levels of IgG, IgM, IgA, and IgE in individuals with oculo-cutaneous, cutaneous, and ocular albinism, respectively, compared to controls (p = 0.000 in each case). Melanin levels showed a significant positive correlation with IgM (r =0.237 p = 0.018) and a significant negative correlation with IgE (r= -247 p = 0.013).  Conclusion: These results suggest that melanin deficiency may contribute to immune system dysregulation, predisposing individuals with albinism to infections, hypersensitivity, and immune imbalances.