Severe combined immunodeficiency due to CORO1A deficiency

Severe combined immunodeficiency due to CORO1A deficiency (also known as SCID due to coronin-1A deficiency) is an extremely rare form of severe combined immunodeficiency (SCID) caused by biallelic mutations in the CORO1A gene, which encodes coronin-1A, an actin-regulatory protein critical for T-cell development, survival, and migration. This condition primarily affects the immune system, leading to a profound deficiency of functional T lymphocytes while B cells and natural killer (NK) cells may be variably affected. The disease is classified among T-cell negative (T−) forms of SCID. Affected infants typically present in early life with recurrent, severe, and life-threatening infections, including bacterial, viral, and opportunistic infections such as those caused by Pneumocystis jirovecii and varicella-zoster virus. Patients may also develop chronic mucocutaneous candidiasis, failure to thrive, chronic diarrhea, and skin rashes. Some patients have been reported to develop features of immune dysregulation, including EBV-driven lymphoproliferation and granulomatous disease. The clinical presentation can overlap with other forms of SCID, making genetic testing essential for definitive diagnosis. Without treatment, SCID due to CORO1A deficiency is fatal in early childhood due to overwhelming infections. The primary curative treatment is hematopoietic stem cell transplantation (HSCT), which can reconstitute the immune system if performed early, ideally before the onset of severe infections. Supportive care includes infection prophylaxis with antimicrobials, immunoglobulin replacement therapy, and protective isolation. Newborn screening programs that detect T-cell receptor excision circles (TRECs) can identify affected infants before clinical symptoms develop, enabling earlier intervention and improved outcomes.

Common questions about Severe combined immunodeficiency due to CORO1A deficiency