- databases for immunodeficiency-causing variations

   Variation registry for  Adenosine deaminase deficiency (ADA)

ADAbase mutation publications

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Search PubMed latest citations for ADA mutations


  • Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.
    Liu P, Santisteban I, Burroughs LM, Ochs HD, Torgerson TR, Hershfield MS, Rawlings DJ, Scharenberg AM
    Clin Immunol 2009(2): 162-74 [PubMed abstract].

  • A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report.
    Hellani A, Almassri N, Abu-Amero KK
    J Med Case Reports 2009(): 6799 [PubMed abstract].


  • Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
    Sanchez JJ, Monaghan G, Børsting C, Norbury G, Morling N, Gaspar HB
    Ann Hum Genet 2007(Pt 3): 336-47 [PubMed abstract].


  • Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.
    Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, Al-Ghonaium A, Al-Helali M, Hershfield MS
    Blood 2002(3): 1005-13 [PubMed abstract].


  • Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
    Ariga T, Oda N, Sanstisteban I, Arredondo-Vega FX, Shioda M, Ueno H, Terada K, Kobayashi K, Hershfield MS, Sakiyama Y
    J Immunol 2001(3): 1698-702 [PubMed abstract].

  • 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.
    Ariga T, Oda N, Yamaguchi K, Kawamura N, Kikuta H, Taniuchi S, Kobayashi Y, Terada K, Ikeda H, Hershfield MS, Kobayashi K, Sakiyama Y
    Blood 2001(9): 2896-9 [PubMed abstract].


  • 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.
    Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS
    Hum Mutat 1998(6): 482 [PubMed abstract].


  • Adenosine deaminase deficiency in adults.
    Ozsahin H, Arredondo-Vega FX, Santisteban I, Fuhrer H, Tuchschmid P, Jochum W, Aguzzi A, Lederman HM, Fleischman A, Winkelstein JA, Seger RA, Hershfield MS
    Blood 1997(8): 2849-55 [PubMed abstract].

  • Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
    Hirschhorn R, Borkowsky W, Jiang CK, Yang DR, Jenkins T
    Hum Genet 1997(1): 22-9 [PubMed abstract].

  • An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
    Jiang C, Hong R, Horowitz SD, Kong X, Hirschhorn R
    Hum Mol Genet 1997(13): 2271-8 [PubMed abstract].


  • Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.
    Bollinger ME, Arredondo-Vega FX, Santisteban I, Schwarz K, Hershfield MS, Lederman HM
    N Engl J Med 1996(21): 1367-71 [PubMed abstract].

  • Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
    Hirschhorn R, Yang DR, Puck JM, Huie ML, Jiang CK, Kurlandsky LE
    Nat Genet 1996(3): 290-5 [PubMed abstract].


  • 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.
    Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML
    Hum Mol Genet 1995(11): 2081-7 [PubMed abstract].

  • Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
    Santisteban I, Arredondo-Vega FX, Kelly S, Debre M, Fischer A, Pérignon JL, Hilman B, elDahr J, Dreyfus DH, Gelfand EW
    Hum Mutat 1995(3): 243-50 [PubMed abstract].


  • 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.
    Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS
    Am J Hum Genet 1994(5): 820-30 [PubMed abstract].

  • Heterogeneity of phenotype in two siblings with adenosine deaminase deficiency.
    Umetsu DT, Schlossman CM, Ochs HD, Hershfield MS
    J Allergy Clin Immunol 1994(2): 543-50 [PubMed abstract].

  • Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.
    Hirschhorn R, Yang DR, Israni A, Huie ML, Ownby DR
    Am J Hum Genet 1994(1): 59-68 [PubMed abstract].

  • Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
    Yang DR, Huie ML, Hirschhorn R
    Clin Immunol Immunopathol 1994(2): 171-5 [PubMed abstract].


  • A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.
    Atasoy U, Norby-Slycord CJ, Markert ML
    Hum Mol Genet 1993(8): 1307-8 [PubMed abstract].

  • A point mutation in the 5' splice region of intron 7 causes a deletion of exon 7 in adenosine deaminase mRNA.
    Kawamoto H, Ito K, Kashii S, Monden S, Fujita M, Norioka M, Sasai Y, Okuma M
    J Cell Biochem 1993(3): 322-5 [PubMed abstract].

  • 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.
    Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L
    J Clin Invest 1993(5): 2291-302 [PubMed abstract].

  • A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.
    Gossage DL, Norby-Slycord CJ, Hershfield MS, Markert ML
    Hum Mol Genet 1993(9): 1493-4 [PubMed abstract].

  • Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
    Hirschhorn R, Chen AS, Israni A, Yang DR, Huie ML
    Hum Mutat 1993(4): 320-3 [PubMed abstract].

  • Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
    Hirschhorn R, Yang DR, Insel RA, Ballow M
    Cell Immunol 1993(2): 383-93 [PubMed abstract].


  • Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency.
    Hirschhorn R, Nicknam MN, Eng F, Yang DR, Borkowsky W
    J Immunol 1992(9): 3107-12 [PubMed abstract].

  • 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).
    Hirschhorn R, Ellenbogen A, Tzall S
    Am J Med Genet 1992(2): 201-7 [PubMed abstract].

  • Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
    Hirschhorn R
    Hum Mutat 1992(2): 166-8 [PubMed abstract].


  • Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
    Hirschhorn R, Chakravarti V, Puck J, Douglas SD
    Am J Hum Genet 1991(4): 878-85 [PubMed abstract].


  • Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.
    Berkvens TM, van Ormondt H, Gerritsen EJ, Khan PM, van der Eb AJ
    Genomics 1990(4): 486-90 [PubMed abstract].

  • Hot spot mutations in adenosine deaminase deficiency.
    Hirschhorn R, Tzall S, Ellenbogen A
    Proc Natl Acad Sci U S A 1990(16): 6171-5 [PubMed abstract].


  • Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
    Hirschhorn R, Tzall S, Ellenbogen A, Orkin SH
    J Clin Invest 1989(2): 497-501 [PubMed abstract].


  • Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.
    Akeson AL, Wiginton DA, Dusing MR, States JC, Hutton JJ
    J Biol Chem 1988(31): 16291-6 [PubMed abstract].

  • Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
    Markert ML, Hutton JJ, Wiginton DA, States JC, Kaufman RE
    J Clin Invest 1988(5): 1323-7 [PubMed abstract].


  • Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
    Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ
    Proc Natl Acad Sci U S A 1987(16): 5947-51 [PubMed abstract].


  • One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
    Valerio D, Dekker BM, Duyvesteyn MG, van der Voorn L, Berkvens TM, van Ormondt H, van der Eb AJ
    EMBO J 1986(1): 113-9 [PubMed abstract].


  • Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
    Bonthron DT, Markham AF, Ginsburg D, Orkin SH
    J Clin Invest 1985(2): 894-7 [PubMed abstract].


  • A phenotypically normal revertant of an adenosine deaminase-deficient lymphoblast cell line.
    Uberti J, Peterson WD, Lightbody JJ, Johnson RM
    J Immunol 1983(6): 2866-70 [PubMed abstract].