ADA, adenosine deaminase, 100

N. diseases: 300; N. variants: 13
Disease: Lymphopenia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 GeneticVariation disease BEFREE This observation suggests that heterozygous ADA mutation might be a predisposing factor for lymphopenia in patients receiving corticosteroid therapy. 30327760 2018
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 GeneticVariation disease BEFREE Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T<sup>-</sup> B<sup>-</sup> NK<sup>-</sup>), thus underscoring the importance of functional purine metabolism for the development of the immune defense. 28842866 2017
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 GeneticVariation disease BEFREE Genetic deficiency of adenosine deaminase (ADA) can cause profound lymphopenia and result in the clinical presentation of severe combined immune deficiency (SCID). 21725047 2011
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease BEFREE Genetic deficiencies in the purine catabolic enzyme adenosine deaminase (ADA) in humans results primarily in a severe lymphopenia and immunodeficiency that can lead to the death of affected individuals early in life. 15705418 2005
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 GeneticVariation disease BEFREE Deficiency in the enzyme adenosine deaminase (ADA) in humans manifests primarily as severe lymphopenia and immunodeficiency, resulting in death by 6 months of age, if untreated. 10833410 2000
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease BEFREE Adenosine deaminase (ADA) deficiency in humans leads to a combined immunodeficiency characterized by severe T and B cell lymphopenia. 10720488 2000
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease BEFREE The adenosine-deaminase-deficient patients highlight a treatable cause of HIV-negative CD4+ lymphopenia in adults, perhaps accounting for further cases of 'non-HIV AIDS'. 9616253 1998
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease BEFREE Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. 9758612 1998
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease BEFREE Deficiency of ADA caused the most profound lymphopenia; gamma c or Jak3 deficiency resulted in the most B cells and fewest natural killer (NK) cells; NK cells and function were highest in autosomal recessive and unknown types of SCID. 9063412 1997
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 AlteredExpression disease BEFREE Two sisters who noted recurrent, predominantly chest infections in their twenties were found in their thirties to have CD4+ lymphopenia and lymphocyte ADA activity of approximately 5% of the lower limit of normal. 8051429 1994
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 GeneticVariation disease BEFREE Hereditary deficiency of adenosine deaminase (ADA) usually causes profound lymphopenia with severe combined immunodeficiency disease. 6134754 1983
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 AlteredExpression disease BEFREE Decreased lymphocyte adenosine deaminase activity in acute lymphocytic leukemia children and their parents. 1053696 1975