Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor

TY - JOUR

T1 - Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor

AU - Geisler, C

AU - Pallesen, G

AU - Platz, P

AU - Odum, N

AU - Dickmeiss, E

AU - Ryder, L P

AU - Svejgaard, A

AU - Plesner, T

AU - Larsen, J K

AU - Koch, C

N1 - 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

PY - 1989

Y1 - 1989

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.

AB - 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.

M3 - Journal article

C2 - 2527256

SN - 0021-9746

VL - 42

SP - 705

EP - 711

JO - Journal of Clinical Pathology

JF - Journal of Clinical Pathology

IS - 7

ER -