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Partial C4 deficiency in two children with systemic lupus erythematosus
A Bakkaloğlu1, M Pascual, J A Schifferli
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
The Turkish Journal of Pediatrics
|April 1, 1995
Summary
Children with systemic lupus erythematosus (SLE) and C4 deficiency due to null alleles experienced varying disease severity. Complement activation via the classical pathway may protect against autoimmune diseases like SLE.
Area of Science:
- Immunology
- Pediatric Rheumatology
- Genetics
Background:
- Systemic lupus erythematosus (SLE) is a rare autoimmune disease in childhood.
- Complement component 4 (C4) deficiency, resulting from null alleles, is linked to SLE susceptibility.
- The classical complement pathway plays a role in immune regulation.
Observation:
- Two pediatric cases of SLE with C4 null alleles are presented.
- Case 1: A 14-year-old girl with C4A null allele experienced mild SLE.
- Case 2: A 7-year-old boy with C4A and C4B null alleles had a severe, fatal SLE course.
Findings:
- Functional C4 deficiency, resulting from C4 null alleles, was observed in both patients.
- The extent of C4 deficiency correlated with disease severity: partial deficiency (C4A0) led to mild SLE, while complete deficiency (C4A0 and C4B0) resulted in severe, fatal SLE.
- Classical pathway complement activation may be crucial for preventing autoimmune and immune-complex diseases.
Implications:
- Complement deficiency, particularly C4 deficiency, is a significant risk factor for early-onset SLE in children.
- Understanding the role of complement pathways can inform diagnosis and management of pediatric SLE.
- Further research into complement's protective role in autoimmunity is warranted.