Gene: ADA

Alternate names for this Gene: ADA1

Gene Summary: This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: adenosine deaminase

Type of Gene: protein-coding

rs1057520217 in ADA gene and SCID Due to ADA Deficiency, Early-Onset PMID 8589684 1995 Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

PMID 25954555 2012 Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.

PMID 25875700 2015 Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

PMID 10200056 1998 Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

PMID 8299233 1994 Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

PMID 2783588 1989 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

PMID 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

PMID 1284479 1992 Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.

PMID 3182793 1988 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PMID 6208479 1984 Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

PMID 3839802 1985 Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

PMID 8227344 1993 Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

PMID 22447032 2012 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.

PMID 19665771 2009 Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency.

PMID 26376800 2015 Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

PMID 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 22764473 2012 Severe combined immunodeficiency due to adenosine deaminase deficiency.

PMID 18952502 2009 Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.

PMID 17185467 2007 Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

PMID 27129325 2016 Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

PMID 9225964 1997 Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.

PMID 2758612 1989 "Rhabdomyolysis in a case of free-base cocaine (""crack"") overdose."

PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

PMID 8614422 1996 Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

PMID 3475710 1987 Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

PMID 28266921 2019 Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.

PMID 22968453 2012 Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

PMID 8178821 1994 Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

PMID 9806422 1998 The association of nonsense codons with exon skipping.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16825284 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

rs121908735 in ADA gene and Severe Combined Immunodeficiency PMID 22447032 2012 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.

PMID 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

PMID 21664875 2011 Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.