Adenosine deaminase deficiency D81.3

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

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.

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.

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
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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