Agnes Donkó, Svetlana O Sharapova, Juraj Kabat, Sundar Ganesan, Fabian Hauck, Louis Marois, Jordan Abbott, Despina Moshous, Kelli W Williams, Nicholas Campbell, Paul L Martin, Chantal Lagresle-Peyrou, Timothy David Trojan, Natalia Kuzmenko, Ekaterina Deordieva, Elena Raykina, Michael S Abers, Hassan Abolhassani, Vincent Barlogis, Carlos Carlos Milla Milla, Geoffrey Hall, Talal Mousallem, Joseph A Church, Neena Kapoor, Guilhem Cros, Hugo Chapdelaine, Clara Franco-Jarava, Ingrid Lopez-Lerma, Maurizio Miano, Jennifer W Leiding, Christoph Klein, Marie José Stasia, Alain Fischer, Kuang-Chih Hsiao, Timi Martelius, Mikko R J Seppänen, Sara Barmettler, Jolan E Walter, Tania Nicole Masmas, Anna Mukhina, Emilia Liana Falcone, Sven Kracker, Anna Shcherbina, Steven M Holland, Thomas L Leto, Amy P Hsu
Mutations in the small Rho-family GTPase, RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder resembling leukocyte adhesion deficiency (LAD), and later-onset combined immune deficiency (CID). We investigated 54 RAC2 patients (23 previously reported) from 37 families. Data were collected from referring physicians and literature reports with updated clinical information. Patients were grouped by presentation: neonatal SCID (n=5), infantile LAD-like disease (n=5), or CID (n=44)...
January 9, 2024: Blood