LAD with RAC2 deficiency

Defects in RAC2 are the cause of neutrophil immunodeficiency syndrome, that clinically resembles LAD1. Rac2 is part of the NADPH oxidase complex. Rac2 is necessary for the regulation of the actin cytoskeleton (chemotaxis and degranulation) and NADPH oxidase (superoxide production) function.

Alternative names

LAD caused by Rac2 deficiency

Neutrophil immunodeficiency syndrome


  • Defects of phagocyte function
    • Leukocyte adhesion defects


Autosomal dominant


#608203 Neutrophil immunodeficiency syndrome

*602049 Ras-related C3 botulinum toxin substrate 2; RAC2

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Leukocyte adhesion deficiency I


Incidence is not known yet.