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- W2790039321 abstract "Introduction X-linked agammaglobulinemia (XLA) is the prototype of humoral primary immunodeficiency disorders. Although the prognosis has improved in recent years, the outcome still varies in different social settings. We describe the clinical burden of XLA, the impact of living with it, and the role of genetic counselling for a family managed at Tygerberg Hospital. Methods: Data was collected from clinical case notes and through semi-structured qualitative interviews with family members. A detailed pedigree of the family was used to highlight important clinical and genetic counselling considerations. Results: Factors that may result in the poor outcome in some members of this family included low socio-economic status and higher exposure to infection, delayed diagnosis, lack of adherence to intravenous immunoglobulin prophylaxis in adolescence and adulthood, irregular follow-up at the Clinical Immunology Service, and poor understanding of the condition. The high burden of disease and early death of affected individuals resulted in fear of the condition, and difficulties in communicating and adjusting to the diagnosis. Conclusion: Primary immunodeficiency disorders, such as XLA, have a dramatic impact on the lives of affected individuals and families in a developing world setting. Genetic counselling has an important role to play in the comprehensive management of these families." @default.
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- W2790039321 date "2015-03-01" @default.
- W2790039321 modified "2023-09-23" @default.
- W2790039321 title "Living with X-linked agammaglobulinemia (XLA) in a developing country setting : clinical and counselling considerations in an affected family : primary immunodeficiency disorders" @default.
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