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Related Experiment Video

Updated: Jun 6, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

ICOS gene polymorphism may be associated with pemphigus.

Joanna Narbutt¹, Aleksandra Lesiak, Izabela Klich

¹Department of Dermatology and Pediatrics and Laboratory of Immunodermatology, Medical University of Lodz, Poland. joanna.narbutt@onet.pl

Journal of Cutaneous Medicine and Surgery

|November 19, 2010

Summary

Genetic variations in the ICOS gene are linked to pemphigus, an autoimmune blistering disease. This suggests that T cell costimulatory receptor function may play a role in pemphigus development.

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Area of Science:

Immunology
Genetics
Dermatology

Background:

Pemphigus is an autoimmune blistering disease.
It involves IgG autoantibodies against desmogleins 3 and/or 1.
Pemphigus is a T cell-mediated disease, suggesting a role for costimulatory signals.

Purpose of the Study:

To investigate the association between pemphigus and polymorphisms in CTLA4 and ICOS genes.
To evaluate the role of costimulatory receptor gene variations in pemphigus pathogenesis.
To assess these genetic factors in the Polish population.

Main Methods:

Study included 54 pemphigus patients (40 PV, 14 PF) and 176 controls.
Analyzed +49A/G CTLA4 and IVS1+173 ICOS gene polymorphisms.
Used modified polymerase chain reaction-restriction fragment-length polymorphism.

Main Results:

No significant differences in CTLA4 gene polymorphism frequencies between patients and controls.
Significant differences in ICOS gene polymorphism distribution observed in both PV and PF patients compared to controls.
Carriers of the ICOS C allele were more frequent in pemphigus patients (PV and PF) than in controls.

Conclusions:

Genetically determined abnormal function of costimulatory receptors in T cells is suggested to be associated with pemphigus pathogenesis.
ICOS gene polymorphisms may represent a genetic risk factor for pemphigus.
Further research into T cell costimulatory pathways is warranted for pemphigus treatment strategies.