Bare Lymphocyte Syndrome

Faculty Opinions recommendation of A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1003898.109057 ◽

2002 ◽

Author(s):

Tim Elliott

Keyword(s):

Type I ◽

Bare Lymphocyte Syndrome

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Bare Lymphocyte Syndrome (BLS, 19p12 [RFXANK], 16p13 [MHC2TA], 1q21.1‐q21.3 [RFX5], 13q14 [RFXAP])

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_1563 ◽

2008 ◽

pp. 191-191

Keyword(s):

Bare Lymphocyte Syndrome

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Bare Lymphocyte Syndrome

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_6241 ◽

2009 ◽

pp. 203-203

Author(s):

Alexander K. C. Leung ◽

Marcus Schmitt ◽

Christie P. Thomas ◽

Cord Sunderkötter ◽

Meinhard Schiller ◽

...

Keyword(s):

Bare Lymphocyte Syndrome

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Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression

Molecular Immunology ◽

10.1016/j.molimm.2005.03.008 ◽

2006 ◽

Vol 43 (5) ◽

pp. 395-409 ◽

Cited By ~ 12

Author(s):

Alyssa B. Long ◽

Angela M. Ferguson ◽

Parimal Majumder ◽

Uma M. Nagarajan ◽

Jeremy M. Boss

Keyword(s):

Transcription Factor ◽

Mhc Class Ii ◽

Class Ii ◽

Conserved Residues ◽

Bare Lymphocyte Syndrome

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Bare Lymphocyte Syndrome (Type I)

Genetic Syndromes ◽

10.1007/978-3-319-66816-1_18-1 ◽

2020 ◽

pp. 1-5

Author(s):

Henri de la Salle ◽

Walter Reith

Keyword(s):

Type I ◽

Syndrome Type ◽

Bare Lymphocyte Syndrome

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Defective transcription of class II genes in bare lymphocyte syndrome patients

Human Immunology ◽

10.1016/0198-8859(88)90172-3 ◽

1988 ◽

Vol 23 (2) ◽

pp. 109

Author(s):

Clifford Hume ◽

Janet S. Lee

Keyword(s):

Class Ii ◽

Bare Lymphocyte Syndrome

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Activation of CD8+T cells by allogeneic class II-deficient B-cell lines derived from patients with bare lymphocyte syndrome

Tissue Antigens ◽

10.1111/j.1399-0039.1990.tb01769.x ◽

1990 ◽

Vol 35 (3) ◽

pp. 136-143 ◽

Cited By ~ 1

Author(s):

Z. Jin ◽

S. Y. Yang

Keyword(s):

T Cells ◽

B Cell ◽

Cell Lines ◽

Cd8 T Cells ◽

Class Ii ◽

Bare Lymphocyte Syndrome

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RFX-B Is the Gene Responsible for the Most Common Cause of the Bare Lymphocyte Syndrome, an MHC Class II Immunodeficiency

Immunity ◽

10.1016/s1074-7613(00)80016-3 ◽

1999 ◽

Vol 10 (2) ◽

pp. 153-162 ◽

Cited By ~ 112

Author(s):

Uma M Nagarajan ◽

Pascale Louis-Plence ◽

Angela DeSandro ◽

Roger Nilsen ◽

Alyssa Bushey ◽

...

Keyword(s):

Mhc Class Ii ◽

Class Ii ◽

Common Cause ◽

Bare Lymphocyte Syndrome

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Bare lymphocyte syndrome: Altered HLA class II expression in B cell lines derived from two patients

Human Immunology ◽

10.1016/0198-8859(89)90065-7 ◽

1989 ◽

Vol 25 (1) ◽

pp. 1-11 ◽

Cited By ~ 35

Author(s):

Clifford R. Hume ◽

Linda A. Shookster ◽

Nancy Collins ◽

Richard O'Reilly ◽

Janet S. Lee

Keyword(s):

B Cell ◽

Cell Lines ◽

Class Ii ◽

Hla Class Ii ◽

Bare Lymphocyte Syndrome

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Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression

Immunological Reviews ◽

10.1034/j.1600-065x.2000.17813.x ◽

2000 ◽

Vol 178 (1) ◽

pp. 148-165 ◽

Cited By ~ 53

Author(s):

Jean-Marc Waldburger ◽

Krzysztof Masternak ◽

Annick Muhlethaler-Mottet ◽

Jean Villard ◽

Marie Peretti ◽

...

Keyword(s):

Mhc Class Ii ◽

Molecular Mechanisms ◽

Class Ii ◽

Bare Lymphocyte Syndrome

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