Condition: SCID Due to ADA Deficiency, Early-Onset


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.

rs121908715 in ADA;PKIG gene and SCID Due to ADA Deficiency, Early-Onset PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PMID 1346349 1992 Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

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

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 2773932 1989 A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.

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

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

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

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

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

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

PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

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

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

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

PMID 1974554 1990 Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

PMID 16276484 2005 Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.

PMID 9414266 1998 Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.

PMID 19179314 2009 Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

PMID 27095930 2016 Combined immunodeficiencies: twenty years experience from a single center in Turkey.

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

PMID 8401541 1993 Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

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

PMID 23260757 2013 Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 7554472 1995 Adenosine deaminase deficiency: molecular basis and recent developments.

rs121908718 in PKIG;ADA gene and SCID Due to ADA Deficiency, Early-Onset 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 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

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

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

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

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 2783588 1989 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA 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 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 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

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

PMID 9108404 1997 Adenosine deaminase deficiency in adults.

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

PMID 1346349 1992 Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

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

PMID 1680289 1991 Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

PMID 8258146 1993 Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).

PMID 8051429 1994 Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

PMID 20544538 2010 Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.

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

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

PMID 11313286 2001 T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.

PMID 11160213 2001 Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

PMID 14499267 2003 Genotype is an important determinant of phenotype in adenosine deaminase deficiency.