KEGG   DISEASE: Adenosine deaminase deficiency
Entry
H02309                      Disease                                

Name
Adenosine deaminase deficiency
  Supergrp
T-B-Severe combined immunodeficiency [DS:H00092]
Description
Adenosine deaminase (ADA) deficiency causes severe combined immunodeficiency disease (SCID). Profound lymphopenia in this disorder has been attributed to toxic levels of ADA substrates, particularly deoxyadenosine, generated from nucleic acid breakdown associated with cell turnover in marrow, thymus, and lymph nodes. Most patients have SCID, which is usually diagnosed in infancy and is often fatal, but some patients are diagnosed later in childhood or as adults. More than 50 ADA mutations are known. Most patients are heteroallelic, and most alleles are rare.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H02309  Adenosine deaminase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H02309  Adenosine deaminase deficiency
Pathway
hsa00230  Purine metabolism
hsa05340  Primary immunodeficiency
Gene
ADA [HSA:100] [KO:K01488]
Drug
Pegademase bovine [DR:D05384]
Elapegademase [DR:D11017]
Other DBs
ICD-11: 4A01.10
ICD-10: D81.3
MeSH: C531816
OMIM: 102700
Reference
PMID:9758612
  Authors
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
  Title
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
  Journal
Am J Hum Genet 63:1049-59 (1998)
DOI:10.1086/302054
Reference
  Authors
Aiuti A, Slavin S, Aker M, Ficara F, Deola S, Mortellaro A, Morecki S, Andolfi G, Tabucchi A, Carlucci F, Marinello E, Cattaneo F, Vai S, Servida P, Miniero R, Roncarolo MG, Bordignon C
  Title
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning.
  Journal
Science 296:2410-3 (2002)
DOI:10.1126/science.1070104
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