HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Combined immunodeficiency (SCID) with autosomal recessively inherited mutation of the gene for the ubiquitous enzyme adenosine deaminsae. High susceptibility to infection. Overall unfavourable prognosis.
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ClassificationThis section has been translated automatically.
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.
DiagnosisThis section has been translated automatically.
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/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
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.
- 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
- Good RA et al (1962) Agammaglobulinemia, hypogammaglobulinemia, Hodgkin's disease and sarcoidosis. Prog Allergy 6:187-319
- Hitzig WH; Willi, H (1961) Hereditary lymphoplasmocytic dysgenesis (alymphocytosis with agammaglobulinamia). Switzerland Med Wschr 91: 1625-1633
- Kohn DB et al (2003) Occurrence of leukaemia following gene therapy of X-linked SCID. Nat Rev Cancer 3: 477-388
- Nikolajeva O et al (2015) Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. J Clin Immunol 35:366-372.
Ursini MV et al (2002) Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness. Clin Exp Immunol 129: 502-509
- 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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