Article
Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.
Frontiers in immunology - 1 Jan 2026
Desjardins Aléhandra, Marois Louis, Donkó Ágnes, Cros Guilhem, Bédard Marc-Antoine, Paul Marie-Lorna, Hsu Amy P, Darbinian Emma, Gosse Géraldine, Leto Thomas L, Chapdelaine Hugo, Massé Chantal, Fernandez Isabel, Touzot Fabien, Sebajang Herawaty, Falcone Emilia Liana
Abstract excerpt
RAC2-related immunodeficiency is a rare inborn error of immunity with a broad clinical spectrum ranging from neonatal severe combined immunodeficiency to atypical combined immunodeficiency diagnosed later in life. We describe two unrelated French-Canadian patients carrying a rare, homozygous RAC2 variant (c.202C>T; p.R68W), both presenting with combined immunodeficiency. The first patient developed recurrent...
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