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Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)
(Wiley-lissNew YorkEUA, 2002)
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED
(SPRINGER/PLENUM PUBLISHERS, 2008)
Background Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in ...
Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED
(Springer, 2008-05-01)
Background Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. the concept of immune dysregulation as a direct cause of autoimmunity in ...
The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
(AMER SOC INVESTIGATIVE PATHOLOGY, INC, 2011)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is caused by mutation of the autoimmune regulator (AIRE) gene, is a highly variable disease characterized by multiple endocrine failure, ...
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
(B M J Publishing GroupLondonInglaterra, 2005)
Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies
(SPRINGER/PLENUM PUBLISHERS, 2008)
Introduction Associations between systemic lupus erythematosus (SLE) and primary immunodeficiencies (PIDs) were analyzed to gain insight into the physiopathology of SLE. Some PIDs have been consistently associated with SLE ...
Update on Aire and thymic negative selection
(Wiley, 2018)