Details of Disease

General Information of Disease (ID: DISE5YMB)

Disease Name Severe combined immunodeficiency due to LCK deficiency
Synonyms
IMD22; immunodeficiency 22; immunodeficiency type 22; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; SCID due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency
Disease Hierarchy
DIS225UQ: T-B- severe combined immunodeficiency
DISE5YMB: Severe combined immunodeficiency due to LCK deficiency
Disease Identifiers
MONDO ID
MONDO_0014334
UMLS CUI
C4014233
OMIM ID
615758
MedGen ID
862670
Orphanet ID
280142

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
LCK TT860QF Strong Autosomal recessive [1]
LCK TT860QF Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LCK OT883FG9 Strong Autosomal recessive [1]
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References

1 Defect of lck in a patient with common variable immunodeficiency. Int J Mol Med. 2001 Jun;7(6):609-14. doi: 10.3892/ijmm.7.6.609.
2 Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15.