A rare case of coronin-1A deficiency with IgM dominant membranoproliferative glomerulonephritis
CEN CASE REPORTS, cilt.14, sa.5, ss.687-692, 2025 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 5
- Basım Tarihi: 2025
- Doi Numarası: 10.1007/s13730-025-01004-2
- Dergi Adı: CEN CASE REPORTS
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Sayfa Sayıları: ss.687-692
- Anahtar Kelimeler: Coronin-1A deficiency, Immunodeficiency, Membranoproliferative glomerulonephritis
- Gazi Üniversitesi Adresli: Evet
Özet
Coronin-1A deficiency, caused by mutations in the CORO1A gene, is an autosomal recessive immunodeficiency characterized by T-cell dysfunction and is classified as severe combined immunodeficiency (SCID). This condition presents with lymphopenia, hypogammaglobulinemia, recurrent Epstein-Barr virus (EBV) infections, EBV-associated B-cell lymphoma and epidermodysplasia verruciformis. This case report presents a 32-year-old female with Coronin-1A deficiency, who developed IgM-dominant membranoproliferative glomerulonephritis (MPGN) alongside recurrent viral infections. This is the first reported case linking Coronin-1A deficiency with MPGN. The patient was treated with corticosteroids, which improved her renal function, but she succumbed to recurrent infections within a year. This case emphasizes the potential for renal disease in immunodeficient patients with persistent infections.