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Severe combined immunodeficiency due to LAT deficiency

Synonyms
Immunodeficiency 52

Summary

IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD52, LAT1, pp36, LAT
    Summary: linker for activation of T cells

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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