KEGG   VARIANT: 5880v1
Entry
5880v1                      Variant                                
Name
RAC2 mutation
Type
Loss of function
Gene
RAC2  ras-related C3 botulinum toxin substrate 2 [KO:K07860]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602049
Network
nt06549  Cadherin signaling
Disease
H01725  Primary immunodeficiency disease
Reference
  Authors
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
  Title
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.
  Journal
Blood 96:1646-54 (2000)
Reference
  Authors
Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, Wu C, Aghamohammadi A, Williams DA, Behrens TW, Hammarstrom L, Pan-Hammarstrom Q
  Title
RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.
  Journal
J Allergy Clin Immunol 135:1380-4.e1-5 (2015)
DOI:10.1016/j.jaci.2014.10.039
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