ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; N. variants: 12
Disease: Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.010 GeneticVariation disease BEFREE Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009