Adenosine deaminase deficiency D81.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

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

History
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Hot and Cold, 1961

Definition
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Combined immunodeficiency (SCID) with autosomal recessively inherited mutation of the gene for the ubiquitous enzyme adenosine deaminsae. High susceptibility to infection. Overall unfavourable prognosis.

Classification
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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.

Diagnosis
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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.

Progression/forecast
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Fatalities despite therapy at 20%.

Literature
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  1. Adams SPet al. (2015) Spectrum of mutations in a cohort of UK patients with
    ADA deficient SCID: Segregation of genotypes with specific ethnicities. Clin Immunol 161:174-179.

  2. 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
  3. Good RA et al (1962) Agammaglobulinemia, hypogammaglobulinemia, Hodgkin's disease and sarcoidosis. Prog Allergy 6:187-319
  4. Hitzig WH; Willi, H (1961) Hereditary lymphoplasmocytic dysgenesis (alymphocytosis with agammaglobulinamia). Switzerland Med Wschr 91: 1625-1633
  5. Kohn DB et al (2003) Occurrence of leukaemia following gene therapy of X-linked SCID. Nat Rev Cancer 3: 477-388
  6. Nikolajeva O et al (2015) Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. J Clin Immunol 35:366-372.
  7. Ursini MV et al (2002) Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness. Clin Exp Immunol 129: 502-509

  8. 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: 29.10.2020