Adenosine deaminase deficiency D81.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 14.03.2022

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ADA-deficiency; ADA-deficient SCID; Adenosine deaminase deficient SCID; Adenosine deaminase deficient severe combined immunodeficiency; lymphoplasmocytic hereditary dysgenesis

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Hot and Cold, 1961

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"Severe combined immunodeficiency, T cell-negative (T-), B cell-negative (B-), natural killer cell-negative (NK-)" is due to an autosomal recessive inherited ADA deficiency. This enzyme defect causes a variable phenotypic spectrum (SCID), with the most severe form of SCID occurring in infancy (early onset) and usually leading to early death. Later manifestations have a milder course.

Finally, "partial" ADA deficiency occurs in a subset of immunocompetent individuals who have reduced enzyme activity in erythrocytes but retain substantial enzyme activity of 5% to 80% of normal in leukocytes and other nucleated cells (summary by Arredondo-Vega et al., 1994).

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3 clinical forms are distinguished:

  • Early onset - classic ADA deficiency (80% of cases): predominant manifestation in the first 3 months of life.ADA activity < 0.01%, clinically associated with skeletal malformations, renal and neurological disorders, hearing loss.
  • Delayed onset (15% of cases): manifestation in 1.-2,LJ; ADA activity 1-2%.
  • Late onset (5% of cases): manifestation in the 3rd-15th year of life. ADA activity in 3-5%; recurrent or persistent HSV infections, sinubronchial bacterial infections, autoimmune diseases.

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ADA deficiency accounts for approximately 15% of all SCID cases and one-third of autosomal recessive SCID cases (Hershfield, 2003).

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Evidence of ADA deficiency, T cells and B cells reduced, an indication may be given by unexplained deaths in the first year of life in the family.

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Fatalities despite therapy at 20%.

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  1. Adams SPet al. (2015) Spectrum of mutations in a cohort of UK patients
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  3. Ariga T et al. (2002) The role of common gamma chain in human monocytes in vivo; evaluation from the studies of X-linked severe combined immunodeficiency (X-SCID) carriers and X-SCID patients who underwent cord blood stem cell transplantation. Br J Haematol 118: 858-863.
  4. Arredondo-Vega FX et al (1990) Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency. J. Clin. Invest. 86: 444-452.
  5. Arredondo-Vega FX et al (1994) Correct splicing despite mutation of the invariant first nucleotide of a 5-prime splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. Am J Hum Genet 54: 820-830.
  6. Good RA et al (1962) Agammaglobulinemia, hypogammaglobulinemia, Hodgkin's disease and sarcoidosis. Prog Allergy 6:187-319.
  7. Hershfield MS (2003) Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immun 15: 571-577.
  8. Hitzig WH; Willi, H (1961) Hereditary lymphoplasmocytic dysgenesis (alymphocytosis with agammaglobulinamia). Schweiz Med Wschr 91: 1625-1633
  9. Kohn DB et al (2003) Occurrence of leukaemia following gene therapy of X-linked SCID. Nat Rev Cancer 3: 477-388
  10. Nikolajeva O et al (2015) Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. J Clin Immunol 35:366-372.
  11. Ursini MV et al (2002) Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness. Clin Exp Immunol 129: 502-509.
  12. Wengler GS et al (1998) Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Br J Haematol 101: 586-591


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Last updated on: 14.03.2022