Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

Abstract Interferon-stimulated gene 15 (ISG15) was the first ubiquitin-like modifier protein identified that acts by protein conjugation (ISGylation) and is thought to modulate IFN-induced inflammation. Here, we report a new patient from a non-consanguineous Argentinian family, who was followed for...

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Bibliographic Details
Main Authors: Guadalupe Buda, Rita María Valdez, German Biagioli, Federico A. Olivieri, Nicolás Affranchino, Carolina Bouso, Vanesa Lotersztein, Dusan Bogunovic, Jacinta Bustamante, Marcelo A. Martí
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
Whole-exome sequencing
ISG15 gene
Case report
Ulcerative skin lesions
Lung disease
Online Access:http://link.springer.com/article/10.1186/s13223-020-00473-7

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