Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.
Adolescent
Alopecia
/ etiology
Autoimmune Diseases
/ etiology
Autoimmune Diseases of the Nervous System
/ complications
Female
Humans
Leukoencephalopathies
/ etiology
Nervous System Malformations
/ complications
SAM Domain and HD Domain-Containing Protein 1
/ genetics
Thrombocytopenia
/ etiology
Vitiligo
/ etiology
Aicardi-Goutières syndrome
Alopecia
Autoimmunity
Leukoencephalopathy
Multiple autoimmune syndrome
Sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1)
Thrombocytopenia
Vitiligo
Journal
Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
10
12
2018
revised:
23
01
2019
accepted:
24
01
2019
pubmed:
23
3
2019
medline:
2
5
2020
entrez:
23
3
2019
Statut:
ppublish
Résumé
Aicardi-Goutières syndrome is an early-onset encephalopathy with presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is a model disease to study systemic autoimmunity, and there are many clinical, genetic, and basic science considerations that underline a possible overlap between Aicardi-Goutières syndrome and systemic lupus erythematosus. We describe a 15-year-old girl with Aicardi-Goutières syndrome due to compound heterozygous pathogenic variants in SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1). Over time, she developed multiple autoimmune diseases (vitiligo, alopecia areata, immune thrombocytopenia, positive antithyroglobulin antibodies) without positive antinuclear antibody or features of systemic lupus erythematosus. Her thrombocytopenia was refractory to treatment with corticosteroids and intravenous immunoglobulin but responded to a standard course of rituximab. This is the first report of a multiple autoimmune syndrome in a patient with molecularly proven Aicardi-Goutières syndrome. This study illustrates an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by early encephalopathic presentation followed by symptoms of systemic autoimmunity.
Sections du résumé
BACKGROUND
Aicardi-Goutières syndrome is an early-onset encephalopathy with presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is a model disease to study systemic autoimmunity, and there are many clinical, genetic, and basic science considerations that underline a possible overlap between Aicardi-Goutières syndrome and systemic lupus erythematosus.
RESULTS
We describe a 15-year-old girl with Aicardi-Goutières syndrome due to compound heterozygous pathogenic variants in SAMHD1 (sterile alpha motif domain and HD domain-containing protein 1). Over time, she developed multiple autoimmune diseases (vitiligo, alopecia areata, immune thrombocytopenia, positive antithyroglobulin antibodies) without positive antinuclear antibody or features of systemic lupus erythematosus. Her thrombocytopenia was refractory to treatment with corticosteroids and intravenous immunoglobulin but responded to a standard course of rituximab.
CONCLUSION
This is the first report of a multiple autoimmune syndrome in a patient with molecularly proven Aicardi-Goutières syndrome. This study illustrates an emerging pattern of the natural history of Aicardi-Goutières syndrome characterized by early encephalopathic presentation followed by symptoms of systemic autoimmunity.
Identifiants
pubmed: 30898416
pii: S0887-8994(18)31322-5
doi: 10.1016/j.pediatrneurol.2019.01.017
pii:
doi:
Substances chimiques
SAM Domain and HD Domain-Containing Protein 1
EC 3.1.5.-
SAMHD1 protein, human
EC 3.1.5.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
37-39Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.