Novel primary thymic defect with T lymphocytes expressing gamma delta T cell receptor.
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.
Geisler
C
C
Tissue Typing Laboratory, Rigshospitalet, State University Hospital, Copenhagen, Denmark.
Pallesen
G
G
Platz
P
P
Odum
N
N
Dickmeiss
E
E
Ryder
L P
LP
Svejgaard
A
A
Plesner
T
T
Larsen
J K
JK
Koch
C
C
D000945:Antigens, Differentiation, T-Lymphocyte / Q000032:analysis*; D017252:CD3 Complex; D002648:Child; D005260:Female; D005434:Flow Cytometry; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008562:Membrane Glycoproteins / Q000032:analysis; D011948:Receptors, Antigen, T-Cell / Q000032:analysis*; D013601:T-Lymphocytes / Q000032:analysis*; D013950:Thymus Gland / Q000276:immunology* / Q000473:pathology
D000945:Antigens, Differentiation, T-Lymphocyte; D017252:CD3 Complex; D008562:Membrane Glycoproteins; D011948:Receptors, Antigen, T-Cell