Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)

Master Thesis

2002

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http://hdl.handle.net/11427/11623
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thesis_hsf_2002_shaboodien_ga.pdf (14.37 MB)
Authors
Shaboodien, Gasna
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University of Cape Town

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Department of Paediatrics and Child Health
Faculty
Faculty of Health Sciences
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Abstract
A specialised clinic for the diagnosis of primary immunodeficiency diseases was established at the Red Cross War Memorial Children's Hospital (RXH) in 1982. The patient load was significant as clinic records indicated that 122 primary immunodeficiency cases were diagnosed on clinical and laboratory data in the period between 1983-1999. More than fifty percent of these conditions were antibody deficiency. Of the rest, nine cases were ascribed to severe combined immunodeficiency (SCID). The aim of the project was to do (1) mutational analysis on the affected families, (2) on the basis of the mutational analysis, offer genetic counselling, (3) do carrier screening tests on the families studied, and (4) to try and find a genotype/phenotype relationship in the gamma chain gene.
Description

Bibliography: leaves 101-110.

Keywords
Paediatrics and Child Health

Reference:

Shaboodien, G. 2002. Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID). University of Cape Town.

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