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Updated: Apr 21, 2026

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
Published on: October 7, 2021
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy
S Buttini1, G Cappellano2, P Ripellino3
11] Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Piemonte Orientale 'Amedeo Avogadro', Novara, Italy [2] Department of Translational Medicine, Section of Neurology, University of Piemonte Orientale 'Amedeo Avogadro', Novara, Italy.
Abstract:
Perforin (PRF) has a key role in the function of cytotoxic T and natural killer cells. Rare variations of PRF1 predispose to autoimmunity. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system, involving defective lymphocyte apoptosis. The aim of this study was to investigate the role of PRF1 in CIDP. The entire coding region of PRF1 was sequenced in 94 patients and 158 controls. We found three missense variations leading to amino acid substitutions and one nonsense variation resulting in a premature stop codon. All variations would decrease PRF activity. Their overall frequency was significantly higher in patients than in controls (odds ratio (OR)=4.47). The most frequent variation was p.Ala91Val (OR=3.92) previously associated with other autoimmune diseases. Clinical analysis showed that PRF1 variations were more frequent in relapsing patients and in patients displaying axonal damage. These data suggest that PRF1 variations may influence CIDP development and course.
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