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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Severe combined immunodeficiency due to adenosine deaminase deficiency.

Severe Combined Immunodeficiency is the term applied to a group of rare genetic disorders characterised by defective or absent T and B cell functions. Patients usually present in first 6 months of life with respiratory/gastrointestinal tract infections and failure to thrive. Among the various types of severe combined immunodeficiency, enzyme deficiencies are relatively less common. We report the case of a 6 years old girl having severe combined immunodeficiency due to adenosine deaminase deficiency.[1]

References

  1. Severe combined immunodeficiency due to adenosine deaminase deficiency. Hussain, W., Batool, A., Ahmed, T.A., Bashir, M.M. J. Pak. Med. Assoc (2012) [Pubmed]
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