Defects in thymic development

Thymic defects compromise T cell development and therefore have resemblance to severe combined immune deficiency. The significant differences are the high rate of other organ involvement and the distinct treatment required since hematopoietic stem cell transplantation cannot correct the thymic defect and change the intrinsic immune deficiency. Thymic defects are also distinct from severe combined immune deficiency in that there are genetic causes, cases due to fetal teratogens and some with no genetic or syndromic associations. Thus, the diagnostic approach must not rely exclusively on sequencing approaches or other genetic approaches.

Duke Scholars

Author Mary Louise Markert Pediatrics, Allergy and Immunology