Friday, January 10, 2025 A NIAID-led study has uncovered the immune fingerprints of each of four different forms of a rare genetic disease called human RAG deficiency. The new findings may help healthcare providers diagnose and manage the potentially fatal disease more effectively. The four conditions are called severe combined immune deficiency (SCID), Omenn syndrome, leaky SCID, and delayed-onset combined immune deficiency. Human RAG deficiency can appear in people at any age, from infancy to adulthood. All forms of the disease can be treated with a bone marrow transplant, but the unique immune fingerprint of each syndrome means healthcare providers must manage each condition differently. The new research was published today in the journal Science Immunology. |
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