Protein Kinase Cδ deficiency in Arab children: A link to fatal monogenic lupus and BCGitis susceptibility
Authors' conclusion
Our findings demonstrate that PRKCD deficiency is associated with autosomal recessive monogenic lupus, characterized by severe and potentially fatal outcomes. They also confirm the link with BCGitis susceptibility.
Study context
- Population
- Arab children with monogenic lupus and PRKCD deficiency from three unrelated consanguineous families, Saudi Arabia and Oman3 unrelated consanguineous families
- Participants
- 7 children
- Outcome
- Phenotypic, genetic and outcome profiles
Methodological detailstwo institutions (Saudi Arabia and Oman), genetically confirmed and clinically suspected cases
- Two institutions (Saudi Arabia and Oman)
- Genetically confirmed and clinically suspected cases
Main finding
As reported in the abstract
- Confirmed PRKCD variants
- four
- Presented before age 2 years with fever and multi-organ involvement
- All
- BCGitis
- three
- High ANA, ds-DNA and APL
- All
- Reduced C1q and CH50
- four
- Received biologic agents
- five
- Low disease activity on intensive treatment
- four
- Died (severe disease and serious infections)
- three
Observational data: associations, not effects.
Original publication
Protein Kinase Cδ deficiency in Arab children: A link to fatal monogenic lupus and BCGitis susceptibility. Lupus. Published 31 October 2025. doi:10.
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