Literature DB >> 20199418

Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report.

Anna Juern1, Amber Robbins, Sheila Galbraith, Beth Drolet.   

Abstract

Aicardi-Goutières syndrome is a primarily autosomal recessive disorder characterized by congenital encephalopathy, basal ganglia calcifications, elevated interferon-alpha in blood and cerebral spinal fluid, and negative studies for intrauterine infections that can mimic the syndrome. Cutaneous manifestations include pernio, photosensitivity, and cutaneous vasculitis. We present a case of Aicardi-Goutières syndrome to increase awareness of the disorder and its possible relation to systemic lupus erythematosus.

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Year:  2010        PMID: 20199418     DOI: 10.1111/j.1525-1470.2009.01055.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  2 in total

1.  Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark.

Authors:  Rikke S Møller; Liwei Zhao; Jessica R Shoaff; Morten Duno; Brian Nauheimer Andersen; Viet Nguyen; Terry C Fang; Varant Kupelian; Robyn Thorén
Journal:  Mol Genet Metab Rep       Date:  2022-10-13

Review 2.  The Role of Cutaneous Type I IFNs in Autoimmune and Autoinflammatory Diseases.

Authors:  Jessica L Turnier; J Michelle Kahlenberg
Journal:  J Immunol       Date:  2020-12-01       Impact factor: 5.422

  2 in total

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