Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.7/395
Título: Early-Onset Autoimmune Disease as a Manifestation of Primary Immunodeficiency
Autor: Carneiro-Sampaio, Magda
Coutinho, Antonio
Palavras-chave: primary immunodeficiency
fetal autoimmunity
juvenile systemic lupus erythematosus
inflammatory bowel disease
Data: 24-Abr-2015
Editora: Frontiers Research Foundation
Citação: Carneiro-Sampaio M and Coutinho A (2015) Early-onset autoimmune disease as a manifestation of primary immunodeficiency. Front. Immunol. 6:185. doi: 10.3389/fimmu.2015.00185
Resumo: 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 TREX1 mutation). IPEX (due to FOXP3 mutation leading to Treg cell deficiency), usually appearing in the first months of life, was recently observed in miscarried fetuses with hydrops who presented with CD3+ infiltrating lymphocytes in the pancreas. Hemophagocytic lymphohistiocytosis due to perforin deficiency was also identified as a cause of fetal hydrops. In conclusion, PID should be suspected in any infant with signs of autoimmunity after excluding transferred maternal effects, or in children with multiple and/or severe AID.
Peer review: yes
URI: http://hdl.handle.net/10400.7/395
DOI: 10.3389/fimmu.2015.00185
Versão do Editor: http://journal.frontiersin.org/article/10.3389/fimmu.2015.00185/abstract
Aparece nas colecções:IR - Publications

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