Treat then repeat : a case of severe combined immunodeficiency

Publication Date

2014

Document Type

Research

Abstract

The patient is a 4-month-old male with history of episodes of pneumonia since birth. Further testing done on this patient confirmed the diagnosis of recurrent pneumonia secondary to X-linked severe combined immunodeficiency, confirmed by genetic analysis as X-linked type IL2RG mutation. Although there have been a number of cases of immunodeficiencies in this institution in the past, this is the first pediatric patient in our institution to have confirmatory testing and genetic analysis for severe combined immunodeficiency.

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