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<p>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. </p>

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A rare case of coronin-1A deficiency with IgM dominant membranoproliferative glomerulonephritis

  • 期刊论文

  • 发表日期：

    2025年6月4日

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  • Zeynep Ural,
  • Betül Ogüt,
  • Gülsüm Kayhan,
  • Ipek Işık Gönül,
  • Ulver Derici

摘要

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.