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  11. Protein Kinase Cδ Deficiency In Arab Children: A Link To Fatal Monogenic Lupus And Bcgitis Susceptibility.
  1. Home
  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Paediatrics
  9. Infant And Child Health
  11. Protein Kinase Cδ Deficiency In Arab Children: A Link To Fatal Monogenic Lupus And Bcgitis Susceptibility.

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Protein Kinase Cδ deficiency in Arab children: A link to fatal monogenic lupus and BCGitis susceptibility.

Sulaiman M Al-Mayouf1,2, Mohammed Assiri1, Safiya Al Abrawi3

  • 1Pediatric Rheumatology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

Lupus
|October 31, 2025

View abstract on PubMed

Summary
This summary is machine-generated.

Protein Kinase Cδ (PRKCD) deficiency causes a severe, often fatal, form of monogenic lupus in Arab children. This condition is linked to recurrent infections, including BCGitis, and requires intensive, personalized treatment strategies.

Keywords:
BCGitisMonogenic lupusPRKCD deficiencyearly-onset systemic lupus erythematosus

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Monogenic lupus, a rare autoimmune disease, results from single gene variants.
  • Protein Kinase Cδ (PRKCD) variants are implicated but underreported in monogenic lupus.
  • Understanding PRKCD deficiency is crucial for diagnosing and managing this severe pediatric condition.

Purpose of the Study:

  • To characterize the clinical, genetic, and outcome profiles of Arab children with PRKCD deficiency-associated monogenic lupus.
  • To investigate the link between PRKCD deficiency and severe clinical manifestations, including BCGitis.
  • To evaluate treatment responses and disease course in this cohort.

Main Methods:

  • Retrospective review of medical records from Saudi Arabia and Oman.
  • Inclusion of genetically confirmed and clinically suspected cases of PRKCD deficiency lupus.
  • Collection and analysis of demographic, clinical, genetic, and follow-up data.

    • Main Results:

    • Seven Arab children from three consanguineous families were identified, with four having confirmed PRKCD variants.
    • All patients presented before age two with fever, multi-organ involvement, and recurrent infections (three with BCGitis).
    • High ANA, ds-DNA, APL, low complement levels, and variable autoantibody positivity were observed; three patients died from severe disease or infections.

    Conclusions:

    • PRKCD deficiency is associated with autosomal recessive monogenic lupus presenting with severe, potentially fatal outcomes in Arab children.
    • The study confirms a link between PRKCD deficiency and BCGitis susceptibility.
    • Disease heterogeneity necessitates precision medicine approaches and further research into treatment strategies.