@article{d4546d40b0a811ddb538000ea68e967b,
title = "Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor",
abstract = "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.",
author = "C Geisler and G Pallesen and P Platz and N Odum and E Dickmeiss and Ryder, {L P} and A Svejgaard and T Plesner and Larsen, {J K} and C Koch",
note = "Keywords: Antigens, CD3; Antigens, Differentiation, T-Lymphocyte; Child; Female; Flow Cytometry; Gene Rearrangement, T-Lymphocyte; Humans; Immunologic Deficiency Syndromes; Membrane Glycoproteins; Receptors, Antigen, T-Cell; T-Lymphocytes; Thymus Gland",
year = "1989",
language = "English",
volume = "42",
pages = "705--11",
journal = "Journal of Clinical Pathology",
issn = "0021-9746",
publisher = "B M J Group",
number = "7",
}