Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

Journal Compilation © 2020 Acta Dermato-Venereologica. doi: 10.2340/00015555-3370 Combined immunodeficiency (CID) syndromes are rare conditions characterized by defective development and function of T-cell and B-cell immunity, determining an increased susceptibility to infections and a heterogeneous spectrum of muco-cutaneous manifestations (1). We report on a female patient presenting with a severe clinical phenotype of CID due to a novel, pathogenetic variant of the CARMIL2 gene. We further characterize the clinical spectrum of this recently described form of autosomal recessive CID with dual T and B-cell intrinsic deficiency (2).