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Immunodeficiency 9

Disease ID:1257
Name:Immunodeficiency 9
Associated with:1 target
1 immuno-relevant target
Synonyms
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Description
IMD9 is a severe, autosomal recessive disorder caused by loss-of-function mutations in the ORAI1 gene which result in deficient CRAC channel function, and defective T-cell activation. The disease is characterised by neonatal onset of recurrent infections, congenital myopathy and ectodermal dysplasia.
Database Links
OMIM: 612782

Targets

Orai1
Comments:  Mutations in the human ORAI1 gene cause defective T cell activation and immune dysfunction.
References:  2-5

Ligands

No ligand related data available for Immunodeficiency 9

References

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1. Feske S. (2011) Immunodeficiency due to defects in store-operated calcium entry. Ann. N. Y. Acad. Sci., 1238: 74-90. [PMID:22129055]

2. Feske S, Müller JM, Graf D, Kroczek RA, Dräger R, Niemeyer C, Baeuerle PA, Peter HH, Schlesier M. (1996) Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. Eur. J. Immunol., 26 (9): 2119-26. [PMID:8814256]

3. Le Deist F, Hivroz C, Partiseti M, Thomas C, Buc HA, Oleastro M, Belohradsky B, Choquet D, Fischer A. (1995) A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. Blood, 85 (4): 1053-62. [PMID:7531512]

4. McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K et al.. (2009) ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J. Allergy Clin. Immunol., 124 (6): 1311-1318.e7. [PMID:20004786]

5. Partiseti M, Le Deist F, Hivroz C, Fischer A, Korn H, Choquet D. (1994) The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. J. Biol. Chem., 269 (51): 32327-35. [PMID:7798233]