Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome

Lambe, Jeffrey; Murphy, Olwen C.; Mu, Weiyi; Schatz, Krista Sondergaard; Barañano, Kristin W.; Venkatesan, Arun

doi:10.1002/acn3.50979

Cited by 2 publications

(1 citation statement)

References 21 publications

(43 reference statements)

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“…The actual prevalence of AGS is unknown (Crow, 1993) but, based on estimated carrier frequencies, the condition is likely underdiagnosed (Lambe et al, 2020; Svingen et al, 2017; Uggetti et al, 2009). This may be partially due to the heterogeneous nature of the condition and the high potential for misdiagnosis given the overlap of clinical features mimicking those of the more common and better recognized acquired congenital infections (Crow, 1993; Rice et al, 2007).…”

Section: Probandmentioning

confidence: 99%

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Tise

Morales

Lee

et al. 2021

American J of Med Genetics Pt A

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We report three unrelated probands, two male and one female, diagnosed with Aicardi‐Goutières syndrome (AGS) after screening positive on California newborn screening (CA NBS) for X‐linked adrenoleukodystrophy (X‐ALD) due to elevated C26:0 lysophosphatidylcholine (C26:0‐LPC). Follow‐up evaluation was notable for elevated C26:0, C26:1, and C26:0/C22:0 ratio, and normal red blood cell plasmalogens levels in all three probands. Diagnoses were confirmed by molecular sequencing prior to 12 months of age after clinical evaluation was inconsistent with X‐ALD or suggestive of AGS. For at least one proband, the early diagnosis of AGS enabled candidacy for enrollment into a therapeutic clinical trial. This report demonstrates the importance of including AGS on the differential diagnosis for individuals who screen positive for X‐ALD, particularly infants with abnormal neurological features, as this age of onset would be highly unusual for X‐ALD. While AGS is not included on the Recommended Universal Screening Panel, affected individuals can be identified early through state NBS programs so long as providers are aware of a broader differential that includes AGS. This report is timely, as state NBS algorithms for X‐ALD are actively being established, implemented, and refined.

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Section: Probandmentioning

confidence: 99%

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Tise

Morales

Lee

et al. 2021

American J of Med Genetics Pt A

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Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib

Wang,

Peng

et al. 2023

Pediatr Rheumatol

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Background Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy characterized by upregulation of the type I interferon pathway, poorly responsive to conventional immunosuppression. Case presentation We describe a 7-year-old Chinese boy who developed symptoms at the age of 6 months. He presented with a chilblain-like rash, leukopenia, neutropenia, elevated liver enzymesgrowth retardation, microcephaly, elevated acute phase reactants, intracranial calcification and leukodystrophy. At the age of 3 years old, whole-exome sequencing confirmed a de novo heterozygous gain-of-function mutation, c.1016 C > A (p.Ala339Asp), in the IFIH1 gene, and he was diagnosed with AGS7. He was treated with ruxolitinib accompanied by steroids and thalidomide for about four years. The rash, hematological manifestations, and the liver function were all improved, but the erythrocyte sedimentation rate remained consistently elevated until the addition of tocilizumab, a monoclonal antibody against interleukin 6. Conclusions Ruxolitinib was not successful in suppressing the inflammatory process, and tocilizumab produced highly encouraging results in reducing the inflammatory reaction of AGS. The study makes a significant contribution to the literature because we may found a potential alternative therapeutic option for AGS.

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Relapsing–remitting clinical course expands the phenotype of Aicardi–Goutières syndrome

Cited by 2 publications

References 21 publications

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib

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