Abstract
Severe combined immunodeficiency (SCID) is a category of immunodeficiency that is uniformly fatal if left untreated. At least nine varieties exist whose genetic basis and corresponding phenotype is known to date. In addition, there are at least eight other forms that can be considered to be part of the same disease spectrum. We discuss a 4-month-old Caucasian male who presented with Pneumocystis carinii pneumonia and persistent Staphylococcus aureus cellulitis of a toe. He was diagnosed with X-linked SCID, and received a sibling- matched human leukocyte antigen identical bone marrow transplant soon after diagnosis. This report discusses the presentation of such infants, as well as the multiple genetic abnormalities, diagnosis, and management of this rare but important disorder.
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