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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 ...
A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation
(Dove Press, 2021-08)
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 muta-tions. Typical clinical features include macrothrombocytopenia, ...
Characterizing the molecular mechanisms of immune dysregulation in proteasome-related interferonopathies and other autoinflammatory diseases
(Universidad del Desarrollo. Facultad de Medicina, 2022-01)
Monogenic Immune Dysregulatory Syndromes are rare life-threatening diseases in which a single genetic defect causes global immune dysregulation manifested by either immunodeficiency, autoinflammation or autoimmunity in a ...
Could dysregulation of RASSF1 expression be a mechanism of tumorigenesis in CTVT?
(Revista Pesquisa Veterinaria Brasileira, 2022-01-01)
Canine transmissible venereal tumor (CTVT) is the oldest known somatic cell lineage. It is a transmissible cancer that propagates naturally in dogs and reportedly contains gene mutations. RASSF1 participates in DNA damage ...
In vivo and in vitro genetic evidence of involvement of neuregulin 1 in immune system dysregulation
(J Mol Med (Berl). 2010 November ; 88(11): 1133–1141, 2010-11)
Neuregulin 1 (NRG1) has been implicated in several disorders including breast cancer, multiple sclerosis, and schizophrenia. Also, recent evidence suggests that NRG1 may play a role in regulation of inflammation and immune ...