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GTR Home > Conditions/Phenotypes > Severe combined immunodeficiency due to CORO1A deficiency

Severe combined immunodeficiency due to CORO1A deficiency

Synonyms
IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION; Immunodeficiency 8
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-8 with lymphoproliferation (IMD8) is an autosomal recessive primary immunodeficiency characterized by early-childhood onset of recurrent infections and lymphoproliferative disorders, often associated with EBV infection. Laboratory studies show defects in the numbers and function of certain lymphocyte subsets, particularly T cells (Moshous et al., 2013; Stray-Pedersen et al., 2014). [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLABP, CLIPINA, HCORO1, IMD8, TACO, p57, CORO1A
    Summary: coronin 1A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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