Rare C1q deficiency presenting as pediatric SLE: A case study of two consanguineous siblings

Parlar K., Aktaş B., Sicakyüz S. L., Şahin S., KASAPÇOPUR Ö., UĞURLU S.

REUMATOLOGIA CLINICA, cilt.21, sa.3, 2025 (ESCI, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 3
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1016/j.reuma.2025.501843
  • Dergi Adı: REUMATOLOGIA CLINICA
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE, MEDLINE, DIALNET
  • Anahtar Kelimeler: C1q deficiency, Chillblain lesions, Neuropsychiatric involvement, Systemic lupus erythematosus
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

C1q deficiency is a rare autosomal recessive genetic condition characterized by mutations in genes C1qA, C1qB, or C1qC which can cause a SLE-like disease. Here, we report the cases of two siblings with C1q deficiency, both of whom had homozygous mutations in the C1QA gene. Both of our patients had NP involvement, and the brother had chilblain lesions. Diagnosis of C1q deficiency was delayed, highlighting the importance of clinical suspicion and genetic testing. This is especially crucial in cases with atypical presentations of SLE and a family history of consanguinity.