Immundeficiency 64 D81.4

Last updated on: 31.05.2022

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

Literature
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  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.

Incoming links (1)

PID;

Outgoing links (1)

Hhv-4 virus infections;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 31.05.2022