Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency
Authors' conclusion
IKZF1 haploinsufficiency disrupted lymphocyte homeostasis, especially of Breg cells and naive CD4+ T cells, highlighting these as key IKZF1 functional targets.
Study context
- Population
- Pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency; lupus patients without known mutations and healthy controls as comparators
- Comparison
- Patient with IKZF1 haploinsufficiency vs patients with lupus with no known genetic mutations and healthy controls
- Outcome
- Immune dysregulation in the IKZF1 haploinsufficiency patient
Methodological detailssingle-cell RNA sequencing, case study
- Single-cell RNA sequencing
- Case study
Main finding
As reported in the abstract
- Notable B cell and T cell dysregulation, with nearly total absence of Breg cells and an increased percentage of naive CD4+ T cells
- Pseudotime analysis: simplified B cell differentiation trajectories with arrested maturation and naive-like cell resurgence
- WGCNA identified a lupus-linked gene module (IKZF1, DUSP1, JUN, FOS); inferred networks suggest compensatory stress circuits (DUSP1, DDX17)
- Overactivation of the interferon (IFN)/JAK/STAT signaling pathway
Further findings
Platelet count after baricitinib plus MMF for persistent thrombocytopenia · 1 month
- Platelet count returned to normal in a month after combination therapy with baricitinib
Original publication
Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency. Arthritis Rheumatol. Published 7 March 2026. doi:10.
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