DISEASE: Adenosine deaminase deficiency

Entry

H02309                      Disease

Name

Adenosine deaminase deficiency

Supergrp

T-B-Severe combined immunodeficiency [DS:H00092]
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

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

Related
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

PMID:12089448

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Drug (2)   
   KEGG DRUG (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (7)   

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