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2018 ; 13
(1
): 65
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Adenosine deaminase deficiency: a review
#MMPMID29690908
Flinn AM
; Gennery AR
Orphanet J Rare Dis
2018[Apr]; 13
(1
): 65
PMID29690908
show ga
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine
degradation by-products, most potently affecting lymphocytes, leading to
adenosine deaminase-deficient severe combined immunodeficiency. Whilst most
notable affects are on lymphocytes, other manifestations include skeletal
abnormalities, neurodevelopmental affects and pulmonary manifestations associated
with pulmonary-alveolar proteinosis. Affected patients present in early infancy,
usually with persistent infection, or with pulmonary insufficiency. Three
treatment options are currently available. Initial treatment with enzyme
replacement therapy may alleviate acute symptoms and enable partial immunological
reconstitution, but treatment is life-long, immune reconstitution is incomplete,
and the reconstituted immune system may nullify the effects of the enzyme
replacement. Hematopoietic stem cell transplant has long been established as the
treatment of choice, particularly where a matched sibling or well matched
unrelated donor is available. More recently, the use of gene addition techniques
to correct the genetic defect in autologous haematopoietic stem cells treatment
has demonstrated immunological and clinical efficacy. This article reviews the
biology, clinical presentation, diagnosis and treatment of ADA-deficiency.
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