MHC class II deficiency: Report of a novel mutation and special review

Farrokhi, S and Shabani, M and Aryan, Z and Zoghi, S and Krolo, A and Boztug, K and Rezaei, N (2017) MHC class II deficiency: Report of a novel mutation and special review. Allergologia et immunopathologia.

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Allergologia et Immunopathologia Volume issue 2017 [doi 10.1016%2Fj.aller.2017.04.006] Farrokhi, S.; Shabani, M.; Aryan, Z.; Zoghi, S.; Krolo, A.; Bozt -- MHC class II deficiency- Report of a novel mu.pdf

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Abstract

The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with MHC II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and dysarthria from 30 months of age. Epidemiology, clinical and immunological features, therapeutic options and prognosis of patients with MHC II are reviewed in this paper. © 2017 SEICAP. Published by Elsevier Espana, ˜ S.L.U. All rights reserved.

Item Type: Article
Subjects: QW Microbiology and Immunology
Divisions: Faculty of Medicin > Department of Immunology and Allergy
Depositing User: محسن زارعی
Date Deposited: 03 Jul 2018 02:20
Last Modified: 03 Jul 2018 02:20
URI: http://eprints.bpums.ac.ir/id/eprint/6530

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