Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

• Published in: Seminars in arthritis and rheumatism Vol. 43; no. 2; pp. 217 - 219
• Main Authors: Bader-Meunier, Brigitte, Cavé, Hélène, Jeremiah, Nadia, Magerus, Aude, Lanzarotti, Nina, Rieux-Laucat, Frédéric, Cormier-Daire, Valérie
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2013
• Subjects: Adolescent; Humans; Intracellular Signaling Peptides and Proteins - genetics; Lupus; Lupus Erythematosus, Systemic - etiology; Lupus Erythematosus, Systemic - genetics; Male; Mutation; Noonan; Noonan Syndrome - complications; Noonan Syndrome - genetics; RASopathies; Rheumatology; Lupus; Noonan; RASopathies

RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS, and SHOC2). Some monogenic conditions...