Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome

Pediatr Neurol. 2019 Jul:96:37-39. doi: 10.1016/j.pediatrneurol.2019.01.017. Epub 2019 Feb 2.


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.

Keywords: Aicardi-Goutières syndrome; Alopecia; Autoimmunity; Leukoencephalopathy; Multiple autoimmune syndrome; Sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1); Thrombocytopenia; Vitiligo.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alopecia / etiology*
  • Autoimmune Diseases / etiology*
  • Autoimmune Diseases of the Nervous System / complications*
  • Autoimmune Diseases of the Nervous System / genetics
  • Female
  • Humans
  • Leukoencephalopathies / etiology*
  • Nervous System Malformations / complications*
  • Nervous System Malformations / genetics
  • SAM Domain and HD Domain-Containing Protein 1 / genetics
  • Thrombocytopenia / etiology*
  • Vitiligo / etiology*


  • SAM Domain and HD Domain-Containing Protein 1
  • SAMHD1 protein, human

Supplementary concepts

  • Aicardi-Goutieres syndrome