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Rac2 which is expressed in cells of hematopoietic origin is a regulatory element that constitutes the predominant NADPH oxidase complex in leukocytes. Thus, it regulates superoxide production, direct migration in neutrophils and play distinct roles in actin organization, cell survival, and proliferation. Its deficiency leads to an immunodeficiency clinically similar to Chronic Granulomatous Diseases. Interestingly, it was shown that RAC2 is involved also in T and B cell immunity.
Rho GTPases, members of the Ras superfamily of GTPases, regulate a wide variety of cellular activities including actin cytoskeleton reorganization, chemotaxis, gene transcription, cell growth, and development. These proteins are divided into six families based on sequence homology, protein domains, and function. Of them, Rac (Ras-related C3 botulinum toxin) proteins composed of three different isoforms, namely, Rac1, Rac2, and Rac3. Rac1 and...
KeywordsRac2 Deficiency Racism T-cell Receptor Excision Circles (TRECs) Nicotinamide Adenine Dinucleotide Phosphate (NADPH) Unrelated Umbilical Cord Blood Transplantation
- Accetta D, Syverson G, Bonacci B, Reddy S, Bengtson C, Surfus J, Harbeck R, Huttenlocher A, Grossman W, Routes J, Verbsky J. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J Allergy Clin Immunol. 2011;127(2):535–8.CrossRefPubMedGoogle Scholar
- Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, Wu C, Aghamohammadi A, Williams DA, Behrens TW, Hammarström L, Pan-Hammarström Q. RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(5):1380–4.CrossRefPubMedGoogle Scholar
- Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A. 2000;97(9):4654–9.CrossRefPubMedPubMedCentralGoogle Scholar
- Williams DA, Tao W, Yang F, Kim C, Gu Y, Mansfield P, Levine JE, Petryniak B, Derrow CW, Harris C, Jia B, Zheng Y, Ambruso DR, Lowe JB, Atkinson SJ, Dinauer MC, Boxer L. Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood. 2000;96(5):1646–54.PubMedGoogle Scholar