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TAP deficiency syndrome

TAP deficiency syndrome
TAP deficiency syndrome
Bare lymphocyte syndrome (BLS) is characterized by a severe down-regulation of HLA class I and/or class II molecules. In type 1 BLS the defect is confined to HLA class I molecules, while in type 2 BLS HLA class II molecules are down-regulated [1]. Characterization of 22 patients with type 1 BLS over the last 22 years has revealed the existence of several clinically and immunologically distinct disease subsets [1–20]. In this review we will focus on a recently characterized group of patients with a distinct disease phenotype due to a defective TAP complex, the peptide transporter complex associated with antigen presentation [2–15]. We will describe clinical manifestations and immunological findings of patients suffering from TAP deficiency syndrome, and discuss the differential diagnosis and therapeutic options.
0009-9104
173-178
Gadola, S.D.
ef2fa6cf-2ccc-4fea-a7a5-cc03a9d13ab1
Moins-Teisserenc, H.T.
5ab6006c-21aa-41ae-ab47-d8715f299e0f
Trowsdale, J.
ec6c3b7d-a688-4375-a61b-dbff47669777
Gross, W.L.
399eeb9d-109b-4cb9-89f5-10727e040f71
Cerundola, V.
a00ddfc2-c582-4be1-9de8-e28ae8435110
Gadola, S.D.
ef2fa6cf-2ccc-4fea-a7a5-cc03a9d13ab1
Moins-Teisserenc, H.T.
5ab6006c-21aa-41ae-ab47-d8715f299e0f
Trowsdale, J.
ec6c3b7d-a688-4375-a61b-dbff47669777
Gross, W.L.
399eeb9d-109b-4cb9-89f5-10727e040f71
Cerundola, V.
a00ddfc2-c582-4be1-9de8-e28ae8435110

Gadola, S.D., Moins-Teisserenc, H.T., Trowsdale, J., Gross, W.L. and Cerundola, V. (2000) TAP deficiency syndrome. Clinical and Experimental Immunology, 121 (2), 173-178. (doi:10.1046/j.1365-2249.2000.01264.x).

Record type: Article

Abstract

Bare lymphocyte syndrome (BLS) is characterized by a severe down-regulation of HLA class I and/or class II molecules. In type 1 BLS the defect is confined to HLA class I molecules, while in type 2 BLS HLA class II molecules are down-regulated [1]. Characterization of 22 patients with type 1 BLS over the last 22 years has revealed the existence of several clinically and immunologically distinct disease subsets [1–20]. In this review we will focus on a recently characterized group of patients with a distinct disease phenotype due to a defective TAP complex, the peptide transporter complex associated with antigen presentation [2–15]. We will describe clinical manifestations and immunological findings of patients suffering from TAP deficiency syndrome, and discuss the differential diagnosis and therapeutic options.

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Published date: August 2000

Identifiers

Local EPrints ID: 175743
URI: https://eprints.soton.ac.uk/id/eprint/175743
ISSN: 0009-9104
PURE UUID: 8d652484-30b4-48ac-b5b0-77b4c15620da

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Date deposited: 28 Feb 2011 10:28
Last modified: 18 Jul 2017 12:09

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Contributors

Author: S.D. Gadola
Author: H.T. Moins-Teisserenc
Author: J. Trowsdale
Author: W.L. Gross
Author: V. Cerundola

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