Details of Disease

General Information of Disease (ID: DISYIUEF)

Disease Name Combined immunodeficiency due to ORAI1 deficiency
Synonyms IMD9; immune dysfunction with T-cell inactivation due to calcium entry defect 1; immunodeficiency 9; immunodeficiency type 9; CID due to ORAI1 deficiency
Definition A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
Disease Hierarchy
DISD9X8U: Combined immunodeficiency due to CRAC channel dysfunction
DISYIUEF: Combined immunodeficiency due to ORAI1 deficiency
Disease Identifiers
MONDO ID
MONDO_0013007
MESH ID
C557826
UMLS CUI
C2748568
OMIM ID
612782
MedGen ID
440578
Orphanet ID
317428

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ORAI1 TTE76YK Strong Autosomal recessive [1]
ORAI1 TTE76YK Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ORAI1 OT2VE9UU Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature. 2006 May 11;441(7090):179-85. doi: 10.1038/nature04702. Epub 2006 Apr 2.
2 ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007.