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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to STK4 deficiency

Combined immunodeficiency due to STK4 deficiency

Synonyms
MST1 DEFICIENCY; STK4 DEFICIENCY; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-110 (IMD110) is an autosomal recessive primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, and autoimmune manifestations. Patients are at risk for developing lymphoproliferative disorders or lymphoma, particularly associated with EBV. Some patients may show cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KRS2, MST1, YSK3, STK4
    Summary: serine/threonine kinase 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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