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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖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 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖Orai1 | |
Comments: | Mutations in the human ORAI1 gene cause defective T cell activation and immune dysfunction. |
References: | 2-5 |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Immunodeficiency 9
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]