IL2RA, interleukin 2 receptor subunit alpha, 3559

N. diseases: 540; N. variants: 43
Disease: Interleukin 2 Receptor, Alpha, Deficiency of ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GeneticVariation disease UNIPROT Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GeneticVariation disease UNIPROT Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 23416241 2013
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease BEFREE PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor α (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. 20650610 2010
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 GermlineCausalMutation disease ORPHANET Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. 9096364 1997
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 CausalMutation disease CLINVAR
CUI: C1853392
Disease: Interleukin 2 Receptor, Alpha, Deficiency of
Interleukin 2 Receptor, Alpha, Deficiency of 		0.710 Biomarker disease CTD_human