Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations

• Published in: European journal of human genetics : EJHG Vol. 9; no. 11; pp. 849 - 854
• Main Authors: Medlej-Hashim, M, Petit, I, Adib, S, Chouery, E, Salem, N, Delague, V, Rawashdeh, M, Mansour, I, Lefranc, G, Naman, R, Loiselet, J, Lecron, J C, Serre, J L, Mégarbané, A
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.11.2001
• Subjects: Arthritis; Blood & organ donations; Colchicine; Consortia; Cytoskeletal Proteins; DNA - genetics; Familial Mediterranean fever; Familial Mediterranean Fever - blood; Familial Mediterranean Fever - genetics; Familial Mediterranean Fever - pathology; Fever; Genetics; Genotype; Genotypes; Heterozygotes; Homozygotes; Humans; Immunoglobulin D; Immunoglobulin D - blood; Immunoglobulins; Kinases; Mutation; Mutation, Missense; Pain; Phenotypes; Plasma levels; Proteins - genetics; Pyrin; Pyrin protein; Serum levels; Severity of Illness Index; Lebanon; Beirut Lebanon; Kuwait; France

Familial Mediterranean Fever (FMF) is a recessively inherited disorder, characterized by episodic fever, abdominal and arthritic pain, as well as other forms of inflammation. Some FMF patients present higher IgD serum levels, and it is not yet known whether such an elevation is related to specific g...