Combined immunodeficiency due to STIM1 deficiency

Orpha code: 317430OMIM code: 612783

Definition

Combined immunodeficiency (CID) due to <i>STIM1</i> deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

Disease data
Classification

Clinical subtype

Synonyms
CID due to STIM1 deficiency
CID z powodu deficytu STIM1
ORPHA code
317430
OMIM code
612783
ICD10 code
D81.8
ICD11 code
-

No additional description.

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