ArticlePediatric rheumatology online journal2018
Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.
Article in Pediatric rheumatology online journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Safety and efficacy of biologics in childhood systemic lupus erythematosus: a critical systematic review.Clinical rheumatology · 2024Pooled it
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency.Journal of human immunity · 2026Article
- Sequential efgartigimod and ofatumumab for stiff-person syndrome: a case report illustrating a pathophysiology-informed strategy and literature review.Frontiers in immunology · 2026Review
- Insights into the pathogenesis of childhood-onset SLE in the past decade.Nature reviews. Rheumatology · 2026Review
- Review
- Primary immunodeficiency as a cause of immune-mediated kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Review
- Systemic lupus erythematosus: pathogenesis and targeted therapy.Molecular biomedicine · 2024Review
- Biologics in Systemic Lupus Erythematosus: Recent Evolutions and Benefits.Pharmaceutics · 2024Review
- Mechanism and target treatment of primary immunodeficiency diseases with systemic lupus erythematosus-like phenotype.Pediatric discovery · 2024Review
- PKCδ Protects against Lupus Autoimmunity.Biomedicines · 2024Review
- Novel and potential future therapeutic options in systemic autoimmune diseases.Frontiers in immunology · 2024Review
- Immunotherapeutic approaches for systemic lupus erythematosus: early overview and future potential.Medical review (2021) · 2023Review
- Phenotypic Variability in PRKCD: a Review of the Literature.Journal of clinical immunology · 2023Review
- Vasculitis and vasculopathy associated with inborn errors of immunity: an overview.Frontiers in pediatrics · 2023Review
- Advances in natural products and antibody drugs for SLE: new therapeutic ideas.Frontiers in pharmacology · 2023Review
- Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency.Journal of clinical immunology · 2022Article
- Impaired respiratory burst contributes to infections in PKCδ-deficient patients.The Journal of experimental medicine · 2021Article
- Pediatric NMOSD: A Review and Position Statement on Approach to Work-Up and Diagnosis.Frontiers in pediatrics · 2020Review
- Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.Frontiers in immunology · 2019Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe previously described an endogamous Pakistani kindred in whom we identified a novel homozygous missense mutation in the PRKCD gene encoding for protein kinase C δ (PKCδ) as a cause of monogenic systemic lupus erythematosus (SLE). PKCδ has a role in the negative regulation of B cells. Given the nature of the disease, a logical targeted therapeutic approach in these patients is B cell depletion. Indeed, the 3 siblings all had a marked clinical response and resolution of symptoms with rituximab, although 2 of the siblings had severe reactions to rituximab thus precluding further treatment with this. We therefore describe the first successful use of ofatumumab for this rare form of monogenic SLE. CASE PRESENTATION: All three affected siblings presented with SLE before the age of 3-years with lethargy, intermittent fever, thrombocytopenia, cutaneous involvement, alopecia, and hepatosplenomegaly. Tubulointerstitial nephritis was also present in 1 of the siblings. Homozygosity mapping followed by whole exome sequencing identified a homozygous missense mutation in PRKCD (p.Gly432Trp), subsequently confirmed by Sanger sequencing to be present in all 3 siblings. All 3 patients were initially treated with rituximab, however 2 of the siblings developed severe infusion-related reactions. For subsequent disease flare in these individuals we therefore used an alternative B cell depleting agent, ofatumumab (300 mg/1.73m
conclusionsPKCδ deficiency causes a monogenic form of SLE which responds well to B cell depletion. Ofatumumab is also likely to have a therapeutic role for sporadic juvenile SLE (jSLE) patients intolerant of rituximab.
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