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Congenital deficiency reveals critical role of ISG15 in skin homeostasis

Congenital deficiency reveals critical role of ISG15 in skin homeostasis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A693733727

Congenital deficiency reveals critical role of ISG15 in skin homeostasis

About this item

Full title

Congenital deficiency reveals critical role of ISG15 in skin homeostasis

Publisher

American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2022-02, Vol.132 (3)

Language

English

Formats

Publication information

Publisher

American Society for Clinical Investigation

More information

Scope and Contents

Contents

Ulcerating skin lesions are manifestations of human ISG15 deficiency, a type I interferonopathy. However, chronic inflammation may not be their exclusive cause. We describe two siblings with recurrent skin ulcers that healed with scar formation upon corticosteroid treatment. Both had a homozygous nonsense mutation in the ISG15 gene, leading to unst...

Alternative Titles

Full title

Congenital deficiency reveals critical role of ISG15 in skin homeostasis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A693733727

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A693733727

Other Identifiers

ISSN

0021-9738

DOI

10.1172/JCI141573.

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