Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids
IP-associated loss of <i>NEMO</i> function is associated with a proinflammatory phenotype, that is moderated by steroids. scRNAseq provides a rationale for immune modulation in an n = 1 setting and valuable insights into the pathogenesis and therapeutics of this rare disease.
Authors
- Shrujna Patel (ORCID: https://orcid.org/0000-0003-4928-692X)
- Hiroya Nishida (ORCID: https://orcid.org/0000-0003-1532-4780)
- Brooke A. Keating (ORCID: https://orcid.org/0009-0002-6444-2628)
- Brian Gloss (ORCID: https://orcid.org/0000-0001-7695-4394)
- Russell C. Dale (ORCID: https://orcid.org/0000-0002-2495-1826)
- Ruwani Dissanayake (ORCID: https://orcid.org/0000-0003-1422-2117)
- Velda X. Han (ORCID: https://orcid.org/0000-0003-4633-4316)
- Shekeeb S. Mohammad (ORCID: https://orcid.org/0000-0003-1219-4781)
- Xianzhong Lau (ORCID: https://orcid.org/0000-0001-7845-8933)
Institutions
- The University of Sydney (AU)
- National University of Singapore (SG)
- Children's Hospital at Westmead (AU)
- Westmead Institute for Medical Research (AU)
- Sydney Children’s Hospitals Network (AU)
- National University Health System (SG)
- AGRF Ltd (AU)
Publication Details
- Journal
- Neurology Neuroimmunology & Neuroinflammation
- Published
- 2025-02-28
- DOI
- https://doi.org/10.1212/nxi.0000000000200358
- Citations
- 4
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 7.27