Case report: Clinical, genetic and immunological characterization of a novel variant in a patient with McLeod syndrome.

Pathogenic variants in the gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature.