title: Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a case report.
abstract: Peripheral Myelin Protein 22 (PMP22) is mostly expressed in Schwann cells where it is essential in the compaction of myelin. The duplication of the PMP22 gene results in a hereditary demyelinating neuropathy of the Charcot-Marie-Tooth type 1A (CMT1A). So far there are only a few case reports suggesting that dysimmune mechanisms may take part in the pathophysiology of this disease. We describe three siblings carrying the duplication of the PMP22 gene, with a significant reduction of serum immunoglobulin G levels in all three cases and sural nerve vasculitis in the two women, which supports the proposition, that immune dysfunction may accompany this disease in some cases.
authors.affiliation: Department of Neurology, University of Debrecen, Debrecen, Hungary. zsuzsanna.pal@gmail.com
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Pál
authors.forename: E
authors.initials: E
authors.lastname: Kiss
authors.forename: A
authors.initials: A
authors.lastname: Gál
authors.forename: T
authors.initials: T
authors.lastname: Csépány
authors.forename: A
authors.initials: A
authors.lastname: Lengyel
authors.forename: Maria Judit
authors.initials: MJ
authors.lastname: Molnar
mesh_terms: D000328:Adult; D018941:Antigens, CD19 / Q000276:immunology; D002607:Charcot-Marie-Tooth Disease / Q000097:blood / Q000276:immunology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics / Q000276:immunology; D056647:Systemic Vasculitis / Q000097:blood / Q000276:immunology / Q000503:physiopathology
chemical_list: D018941:Antigens, CD19; D007074:Immunoglobulin G; D009185:Myelin Proteins; C073687:PMP22 protein, human