Immundeficiency 64D81.4

Last updated on: 31.05.2022

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DefinitionThis section has been translated automatically.

Immunodeficiency 64 syndrome (IMD64) is an autosomal recessive primary immunodeficiency characterized by a mutation in the RASGRP1 gene (603962) on chromosome 15q14.

LiteratureThis section has been translated automatically.

  1. Bivona TG et al. (2003) Phospholipase Cgamma activates Ras on the Golgi apparatus by means of RasGRP1. Nature 424(6949):694-698.
  2. Mao H et al (2018) RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J. Allergy Clin. Immun. 142: 595-604.
  3. Platt CD et al. (2017) Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. (Letter) Clin Immun 183: 142-144.
  4. Priatel JJ et al (2007) Chronic immunodeficiency in mice lacking RasGRP1 results in CD4 T cell immune activation and exhaustion. J Immun 179: 2143-2152.
  5. Salzer E et al. (2016) RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nature Immune 17: 1352-1360.
  6. Winter S et al. (2018) Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility. EMBO Molec Med 10: 188-199.

Last updated on: 31.05.2022