title: The relationship of x-linked primary immune deficiencies and autoimmunity.
abstract: It is well-known that autoimmunity is significantly more prevalent in females. Growing evidence indicates that genes located on the X chromosome may play a role in autoimmunity and immune dysregulation, as also indicated by the frequent association of autoimmune phenomena in patients with X-linked primary immune deficiencies (PIDs). Hence, this group of genetic disorders is of particular interest to study PID-causing genes in the setting of more complex autoimmune disorders. This review focuses on the mechanisms leading to the autoimmune phenomena that are associated with the different X-linked PIDs, and on the intriguing interplay between immune dysregulation and immune deficiency in this unique setting.
authors.affiliation: Division of Immunology, Children's Hospital, Harvard Medical School, One Blackfan Circle, Boston, MA 02115, USA. itai.pessach@childrens.harvard.edu
authors.forename: Itai M
authors.initials: IM
authors.lastname: Pessach
mesh_terms: D015551:Autoimmunity / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*