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HLA class I deficiency syndrome mimicking Wegener's granulomatosis


A Villa-Forte, H de la Salle, D Fricker, F … - Arthritis Care & Research - interscience.wiley.com
Herein we report the case of a 20-year-old woman who presented with multiple
skin ulcers on her legs, severe pansinusitis, and chronic lung disease. She was
initially thought to have Wegener's granulomatosis (WG). However, serologic ...
Cited by 10 - Related articles - All 2 versions

A novel mutation for TAP deficiency and its possible association with toxoplasmosis


F Doğu, A İkincioğulları, D Fricker, G … - Parasitology International, 2006 - Elsevier
The presentation of peptide antigens by HLA class I molecules requires the
transport of the peptides from the cytosol into the lumen of the endoplasmic
reticulum by TAP [1]. Congenital deficiency in one of the two subunits of ...
Cited by 6 - Related articles - All 3 versions

Description of HLA class I-and CD8-deficient patients: insights into the function of cytotoxic …


V Cerundolo, H de la Salle - Seminars in Immunology, 2006 - Elsevier
Over the last few years, several patients with defects in the HLA class I
presentation pathway have been described. Analysis of their clinical symptoms
and immunological parameters have led to the identification of several ...
Cited by 5 - Related articles - All 2 versions

Phenotypic studies of natural killer cell subsets in human transporter associated with …


J Zimmer, H Bausinger, E Andrès, L Donato, D … - PLoS ONE, 2007 - pubmedcentral.nih.gov
Peripheral blood natural killer (NK) cells from patients with transporter
associated with antigen processing (TAP) deficiency are hyporesponsive. The
mechanism of this defect is unknown, but the phenotype of TAP-deficient NK ...
Cited by 3 - Related articles - All 6 versions

Reduced cytokine-mediated up-regulation of HLA-DR in TAP-deficient fibroblasts


J Zimmer, A Poli, E Andrès, D Hanau, NHC … - Immunology letters, 2006 - Elsevier
Human deficiency in transporter associated with antigen processing (TAP) is
characterized by a very low surface expression of human leukocyte antigen (HLA)
class I molecules in hematopoietic and non hematopoietic cells. Among the ...
Cited by 1 - Related articles - All 4 versions

Core Messages


F Le Deist, D Moshous, SJ Howe, A Nahum, … - Springer
● Combined immunodeficiency comprises a heterogeneous group of disorders,
character- ized by lack of T cell-mediated immunity and impaired B cell
function. ● Combined immunodeficiency has most often an early onset, ...
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[CITATION] Transporter associated with antigen processing deficiency: an additional condition …


J Zimmer, E Andrès, F Hentges - Internal Medicine Journal - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
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degraded, the site should continue to be functional. We recommend using the ...
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[CITATION] The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children …


D Dogru, F Özbas Gerçeker, E Yalçin, N … - Pediatric Pulmonology, 2007 - Wiley Subscription Services, Inc., A Wiley Company …
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