Details of Disease

General Information of Disease (ID: DISULHPI)

Disease Name Combined immunodeficiency due to STIM1 deficiency
Synonyms IMD10; STIM1 deficiency; immunodeficiency 10; immune dysfunction with T-cell inactivation due to calcium entry defect 2; immunodeficiency type 10; CID due to STIM1 deficiency
Definition Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
Disease Hierarchy
DISD9X8U: Combined immunodeficiency due to CRAC channel dysfunction
DISULHPI: Combined immunodeficiency due to STIM1 deficiency
Disease Identifiers
MONDO ID
MONDO_0013008
MESH ID
C557827
UMLS CUI
C2748557
OMIM ID
612783
MedGen ID
440575
Orphanet ID
317430

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STIM1 OT8CLQ1W Strong Autosomal recessive [1]
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References

1 STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med. 2009 May 7;360(19):1971-80. doi: 10.1056/NEJMoa0900082.