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

Severe combined immunodeficiency due to LCK deficiency

Synonyms
Immunodeficiency 22
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-22 (IMD22) is an autosomal recessive disorder characterized by the onset of recurrent bacterial, viral, and fungal respiratory, gastrointestinal, and skin infections in infancy or early childhood. Immunologic workup shows severe T-cell lymphopenia, particularly affecting the CD4+ subset, and impaired proximal TCR intracellular signaling and activation. Although NK cells and B cells are normal, some patients may have hypogammaglobulinemia secondary to the T-cell defect. There are variable manifestations, likely due to the severity of the particular LCK mutation: patients may develop prominent skin lesions resembling epidermodysplasia verruciformis, gastrointestinal inflammation, and virus-induced malignancy. The disease can be fatal in childhood, but hematopoietic stem cell transplant (HSCT) may be curative (Hauck et al., 2012; Li et al., 2016; Keller et al., 2023). [from OMIM]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD22, LSK, YT16, p56lck, pp58lck, LCK
    Summary: LCK proto-oncogene, Src family tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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