AUTHOR=Carneiro-Sampaio Magda , Coutinho Antonio TITLE=Early-Onset Autoimmune Disease as a Manifestation of Primary Immunodeficiency JOURNAL=Frontiers in Immunology VOLUME=Volume 6 - 2015 YEAR=2015 URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2015.00185 DOI=10.3389/fimmu.2015.00185 ISSN=1664-3224 ABSTRACT=
Autoimmune disorders (AID) have been increasingly observed in association with primary immunodeficiencies (PIDs). Here, we discuss the interface between PID and AID, focusing on autoimmune manifestations early in life, which can be diagnostic clues for underlying PIDs. Inflammatory bowel disease in infants and children has been associated with IL-10 and IL-10R deficiencies, chronic granulomatous disease, immunedysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX), autoinflammatory disorders, and others. Some PIDs have been identified as underlying defects in juvenile systemic lupus erythematosus: C1q-, IgA-, IgM deficiencies, alterations of the IFN-α pathway (in Aicardi–Goutières syndrome due to