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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to STIM1 deficiency

Combined immunodeficiency due to STIM1 deficiency

Synonyms
IMMUNODEFICIENCY 10; Immune dysfunction with T-cell inactivation due to calcium entry defect 2; STIM1 DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-10 (IMD10) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016). [from OMIM]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D11S4896E, GOK, IMD10, STRMK, TAM, TAM1, STIM1
    Summary: stromal interaction molecule 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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