Skip to main content

Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations

This is a preview of subscription content, access via your institution.

Fig. 1


  1. Jayaraman T et al (2008) TNF-alpha-mediated inflammation in cerebral aneurysms: a potential link to growth and rupture. Vasc Health Risk Manag 4(4):805–817

    CAS  Article  Google Scholar 

  2. Chalouhi N, Hoh BL, Hasan D (2013) Review of cerebral aneurysm formation, growth, and rupture. Stroke 44(12):3613–3622

    Article  Google Scholar 

  3. Toubiana J et al (2016) Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 127(25):3154–3164

    CAS  Article  Google Scholar 

  4. Huang J et al (2005) Intracranial aneurysms in the pediatric population: case series and literature review. Surg Neurol 63(5):424–432

    Article  Google Scholar 

  5. Backes D et al (2016) Patient- and aneurysm-specific risk factors for intracranial aneurysm growth. Stroke 47(4):951–957

    Article  Google Scholar 

  6. Nagel MA, Gilden D (2016) Developments in varicella zoster virus vasculopathy. Curr Neurol Neurosci Rep 16(2):12

    Article  Google Scholar 

  7. Atchaneeyasakul K et al (2018) Association of hypothyroidism with unruptured cerebral aneurysms: a case-control study. J Neurosurg 128(2):511–514

    Article  Google Scholar 

  8. Nagashima T et al (2000) Cerebral vasculitis in chronic mucocutaneous candidiasis: autopsy case report. Neuropathology 20(4):309–314

    CAS  Article  Google Scholar 

  9. Scott O et al (2021) STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses. NPJ Genom Med 6(1):34

    CAS  Article  Google Scholar 

  10. Zhou HF et al (2013) CD43-mediated IFN-γ production by CD8+ T cells promotes abdominal aortic aneurysm in mice. J Immunol 190(10):5078–5085

    CAS  Article  Google Scholar 

  11. Marinković G et al (2013) Immunosuppressive drug azathioprine reduces aneurysm progression through inhibition of Rac1 and c-Jun-terminal-N-Kinase in endothelial cells. Arterioscler Thromb Vasc Biol 33(10):2380–2388

    Article  Google Scholar 

  12. Shimizu K et al (2004) Th2-predominant inflammation and blockade of IFN-gamma signaling induce aneurysms in allografted aortas. J Clin Investig 114(2):300–308

    CAS  Article  Google Scholar 

  13. Bernal S et al (2021) Protective effect of suppressor of cytokine signalling 1-based therapy in experimental abdominal aortic aneurysm. Br J Pharmacol 178(3):564–581

    CAS  Article  Google Scholar 

  14. Forbes LR et al (2018) Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol 142(5):1665–1669

    CAS  Article  Google Scholar 

  15. Chandesris M-O et al (2012) Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency. Circ Cardiovasc Genet 5(1):25–34

    CAS  Article  Google Scholar 

  16. Regis G et al (2008) Ups and downs: the STAT1:STAT3 seesaw of Interferon and gp130 receptor signalling. Semin Cell Dev Biol 19(4):351–359

    CAS  Article  Google Scholar 

  17. Albasanz-Puig A et al (2012) Opposing roles of STAT-1 and STAT-3 in regulating vascular endothelial growth factor expression in vascular smooth muscle cells. Biochem Biophys Res Commun 428(1):179–184

    CAS  Article  Google Scholar 

  18. Lee S et al (2007) Autocrine VEGF signaling is required for vascular homeostasis. Cell 130(4):691–703

    CAS  Article  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Shaia Bierman-Chow.

Ethics declarations

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical approval

This study was approved by the NIH Institutional Review Board (IRB) and Office of Ethics at NIAID. We certify that the study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Bierman-Chow, S., Freeman, A.F., Holland, S.M. et al. Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations. J Neurol 269, 5638–5642 (2022).

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: