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GTR Home > Conditions/Phenotypes > Immunodeficiency 63 with lymphoproliferation and autoimmunity

Immunodeficiency 63 with lymphoproliferation and autoimmunity

Synonyms
CD122 DEFICIENCY; IL2RB DEFICIENCY; INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF

Summary

Immunodeficiency-63 with lymphoproliferation and autoimmunity (IMD63) is an autosomal recessive disorder characterized by immune dysregulation. Affected individuals present in infancy with features of both abnormal activation of certain immune signaling pathways, resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia, as well as features of immunodeficiency, such as recurrent infections and increased susceptibility to viral infections, especially CMV. Laboratory studies show increased NK cells that show impaired differentiation, as well as abnormal T cell populations or responses. Some patients may die in childhood; hematopoietic bone marrow transplantation is curative (summary by Zhang et al., 2019). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD122, IL15RB, IMD63, P70-75, IL2RB
    Summary: interleukin 2 receptor subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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