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GTR Home > Conditions/Phenotypes > Immunodeficiency 19

Immunodeficiency 19

Synonyms
CD3-DELTA DEFICIENCY; IMMUNODEFICIENCY 19, SEVERE COMBINED; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE

Summary

Severe combined immunodeficiency-19 (IMD19) is an autosomal recessive disorder characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic workup shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). [from OMIM]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD3-DELTA, CD3DELTA, IMD19, T3D, CD3D
    Summary: CD3 delta subunit of T-cell receptor complex

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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