TY - JOUR T1 - Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor. JF - Journal of Clinical Pathology JO - J Clin Pathol SP - 705 LP - 711 DO - 10.1136/jcp.42.7.705 VL - 42 IS - 7 AU - C Geisler AU - G Pallesen AU - P Platz AU - N Odum AU - E Dickmeiss AU - L P Ryder AU - A Svejgaard AU - T Plesner AU - J K Larsen AU - C Koch Y1 - 1989/07/01 UR - http://jcp.bmj.com/content/42/7/705.abstract N2 - Flow cytometric analysis of the peripheral blood mononuclear cells in a six year old girl with a primary cellular immune deficiency showed a normal fraction of CD3 positive T cells. Most (70%) of the CD3 positive cells, however, expressed the gamma delta and not the alpha beta T cell receptor. Immunoprecipitation and sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) showed that most of the gamma delta T cell receptors existed as disulphide-linked heterodimers. Proliferative responses to mitogens were severely reduced, but specific antibody responses after vaccination could be detected. A thymic biopsy specimen showed severe abnormalities of both the thymic lymphoid and epithelial component with abortive medullary differentiation and almost an entire lack of Hassall's corpuscles. This patient represents a case of primary immune deficiency syndrome not previously described. Thymic deficiency associated with a high proportion of T cells expressing the gamma delta T cell receptor has been described in nude mice, and it is suggested that the immune deficiency of this patient may represent a human analogue. ER -