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severe combined immunodeficiency due to LCK deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Uniprot Description A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive.
Mondo Term and Equivalent IDs
MONDO:0014334:  severe combined immunodeficiency due to LCK deficiency
Orphanet:280142: 
UMLS:C4014233: