How I treat ADA deficiency.

@article{Gaspar2009HowIT,
  title={How I treat ADA deficiency.},
  author={H Bobby Gaspar and Alessandro Aiuti and Fulvio Porta and Fabio Candotti and Michael S. Hershfield and Luigi Daniele Notarangelo},
  journal={Blood},
  year={2009},
  volume={114 17},
  pages={
          3524-32
        }
}
Adenosine deaminase deficiency is a disorder of purine metabolism leading to severe combined immunodeficiency (ADA-SCID). Without treatment, the condition is fatal and requires early intervention. Haematopoietic stem cell transplantation is the major treatment for ADA-SCID, although survival following different donor sources varies considerably. Unlike other SCID forms, 2 other options are available for ADA-SCID: enzyme replacement therapy (ERT) with pegylated bovine ADA, and autologous… 

Figures from this paper

How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID)

This work proposes a treatment algorithm for patients with ADA SCID that recommends HSCT from a matched family donor, when available, as a first choice, followed by GT as the next option, with allogeneic HS CT from an unrelated or haplo-identical donor or long-term ERT as other options.

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GT should be considered for patients without an appropriate HSCT donor and when families are able to travel to Italy or participate in research protocols, although long-term follow up is needed to determine their continued effectiveness.

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This investigation investigated the medium-term outcome of gene therapy (GT) in 18 patients with ADA-SCID for whom an HLA-identical family donor was not available; most were not responding well to ERT.

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The value of the ADA-deficient mouse model as a useful tool to study both immune and metabolic disease mechanisms and the lymphocyte subpopulations particularly prone to contribute to the loss of self-tolerance and onset of autoimmunity in ADA deficiency are assessed.

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It was highlighted once again that the deficiency of purine salvage enzymes is important subgroup of SCIDs in Turkey.

MANAGEMENT OF ADENOSINE DEAMINASE DEFICIENCY: A REVIEW ARTICLE

The aim of this paper is to present an overview of ADA deficiency and the available treatment modalities and to suggest antibiotic prophylaxis specific treatment provided based on individualized level.

A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient

A 24-year course of treatment in a patient who was diagnosed with ADA deficiency has resulted in near-normalization of lymphocyte counts, and this patient is among the longest to be maintained on PEG-ADA enzyme replacement therapy.
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References

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The high rate of neurologic abnormalities observed in long-term surviving patients with ADA deficiency indicates that HSCT commonly fails to control CNS complications in this metabolic disease.

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Gene therapy, combined with reduced-intensity conditioning, is a safe and effective treatment for SCID in patients with ADA deficiency and effective protection against infections and improvement in physical development made a normal lifestyle possible.

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Data indicate that decreased thymic function, B cell oligoclonality, and increased spontaneous apoptosis may be the mechanisms by which the immunodeficiency of ADA‐SCID patients persists in spite of treatment with PEG‐ADA.

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