TITLE:
Phenocopies: Mimics of Inborn Errors of Immunity
AUTHORS:
Cesar Daniel Alonso-Bello, Sara Elva, Mariano Daniel Témix-Delfín, Fernando Lozano-Patiño, Victoria Isabel Castañeda-Avila, María Eugenia Vargas-Camaño, María Isabel Castrejón-Vázquez
KEYWORDS:
Phenocopies, Primary, Deficiency, Immunologic Deficiency Syndrome
JOURNAL NAME:
Open Access Library Journal,
Vol.7 No.1,
January
14,
2020
ABSTRACT: A phenocopy is defined as a clinical non-inherited phenotype in an indi-vidual, with environmental induction, which is identical to the genetically determined phenotype of another. Until February 2017, the IUIS (Interna-tional Union of Immunological Societies) reported in its classification 354 innate immunity errors and a final group (classification table IX) with con-ditions that are not part of the innate alterations and are called phenocopies. These are classified into two types, the associated with somatic mutations and those associated with auto-antibodies. The phenotypes that occur by any of the mechanisms mentioned are complex and varied. It is necessary to know the clinical manifestations of the pathologies classified in this group to enrich the possible differential diagnoses in individuals with suspected immunodeficiency.