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Volumn 134, Issue 2, 2014, Pages 269-275

MHC class i and II deficiencies

Author keywords

class II transactivator; immunodeficiency; MHC class I and II; regulatory factor X; tapasin; transporter associated with antigen processing I and II

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; STEROID; TAPASIN; DNA BINDING PROTEIN; HLA ANTIGEN CLASS 1; HLA ANTIGEN CLASS 2; REGULATORY FACTOR X TRANSCRIPTION FACTORS; RFX5 PROTEIN, HUMAN; RFXANK PROTEIN, HUMAN; RFXAP PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

EID: 84906100984     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.06.001     Document Type: Article
Times cited : (108)

References (32)
  • 1
    • 84906101092 scopus 로고    scopus 로고
    • Molecular basis of major histocompatibility complex class II deficiency
    • H. Ochs, E. Smith, J. Puck, Oxford University Press New York
    • W. Reith, C. Picard, and A. Fischer Molecular basis of major histocompatibility complex class II deficiency H. Ochs, E. Smith, J. Puck, Primary immunodeficiency diseases. A molecular and genetic approach 2014 Oxford University Press New York 241 257
    • (2014) Primary Immunodeficiency Diseases. A Molecular and Genetic Approach , pp. 241-257
    • Reith, W.1    Picard, C.2    Fischer, A.3
  • 2
    • 33644998297 scopus 로고    scopus 로고
    • The evolutionary ecology of the major histocompatibility complex
    • S.B. Piertney, and M.K. Oliver The evolutionary ecology of the major histocompatibility complex Heredity 96 2006 7 21
    • (2006) Heredity , vol.96 , pp. 7-21
    • Piertney, S.B.1    Oliver, M.K.2
  • 3
    • 58149097584 scopus 로고    scopus 로고
    • The who, how and where of antigen presentation to B cell
    • F.D. Batista, and N.E. Harwood The who, how and where of antigen presentation to B cell Nat Rev Immunol 9 2009 15 27
    • (2009) Nat Rev Immunol , vol.9 , pp. 15-27
    • Batista, F.D.1    Harwood, N.E.2
  • 5
    • 84855957739 scopus 로고    scopus 로고
    • Peptide transporter defects in human leukocyte antigen class i deficiency
    • H. Ochs, E. Smith, J. Puck, Oxford University Press New York
    • H. de la Salle, L. Donato, and D. Hanau Peptide transporter defects in human leukocyte antigen class I deficiency H. Ochs, E. Smith, J. Puck, Primary immunodeficiency diseases. A molecular and genetic approach 2014 Oxford University Press New York 258 268
    • (2014) Primary Immunodeficiency Diseases. A Molecular and Genetic Approach , pp. 258-268
    • De La Salle, H.1    Donato, L.2    Hanau, D.3
  • 7
    • 0017817039 scopus 로고
    • Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens
    • J.-L. Touraine, H. Betuel, G. Souillet, and M. Jeune Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens J Pediatr 93 1978 47 51
    • (1978) J Pediatr , vol.93 , pp. 47-51
    • Touraine, J.-L.1    Betuel, H.2    Souillet, G.3    Jeune, M.4
  • 8
    • 0028147121 scopus 로고
    • Homozygous human TAP peptide transporter mutation in HLA class i deficiency
    • H. de la Salle, D. Hanau, D. Fricker, A. Urlacher, A. Kelly, and J. Salamero et al. Homozygous human TAP peptide transporter mutation in HLA class I deficiency Science 265 1994 237 241
    • (1994) Science , vol.265 , pp. 237-241
    • De La Salle, H.1    Hanau, D.2    Fricker, D.3    Urlacher, A.4    Kelly, A.5    Salamero, J.6
  • 10
    • 0036284601 scopus 로고    scopus 로고
    • Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP)
    • H. de la Salle, X. Saulquin, I. Mansour, S. Klayme, D. Fricker, and J. Zimmer et al. Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP) Clin Exp Immunol 128 2002 525 531
    • (2002) Clin Exp Immunol , vol.128 , pp. 525-531
    • De La Salle, H.1    Saulquin, X.2    Mansour, I.3    Klayme, S.4    Fricker, D.5    Zimmer, J.6
  • 11
    • 0037103321 scopus 로고    scopus 로고
    • A subject with a novel type i bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exon by Alu- mediated recombination
    • T. Yabe, S. Kawamura, M. Sato, K. Kashiwase, H. Tanaka, and Y. Ishikawa et al. A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exon by Alu- mediated recombination Blood 100 2002 1496 1498
    • (2002) Blood , vol.100 , pp. 1496-1498
    • Yabe, T.1    Kawamura, S.2    Sato, M.3    Kashiwase, K.4    Tanaka, H.5    Ishikawa, Y.6
  • 12
    • 0031895637 scopus 로고    scopus 로고
    • Mechanisms of MHC class I-restricted antigen processing
    • E. Pamer, and P. Cresswell Mechanisms of MHC class I-restricted antigen processing Annu Rev Immunol 16 1998 323 353
    • (1998) Annu Rev Immunol , vol.16 , pp. 323-353
    • Pamer, E.1    Cresswell, P.2
  • 13
    • 0034893327 scopus 로고    scopus 로고
    • Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency
    • N. Matamoros, J. Mila, M. Llano, A. Balas, J.L. Vicario, and J. Pons et al. Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency Clin Exp Immunol 125 2001 274 282
    • (2001) Clin Exp Immunol , vol.125 , pp. 274-282
    • Matamoros, N.1    Mila, J.2    Llano, M.3    Balas, A.4    Vicario, J.L.5    Pons, J.6
  • 14
    • 10744232230 scopus 로고    scopus 로고
    • The mechanisms controlling NK cell autoreactivity in TAP 2-deficient patients
    • G. Markel, H. Mussaffi, K.L. Ling, M. Salio, S. Gadola, and G. Steuer et al. The mechanisms controlling NK cell autoreactivity in TAP 2-deficient patients Blood 103 2004 1770 1778
    • (2004) Blood , vol.103 , pp. 1770-1778
    • Markel, G.1    Mussaffi, H.2    Ling, K.L.3    Salio, M.4    Gadola, S.5    Steuer, G.6
  • 16
    • 0035064073 scopus 로고    scopus 로고
    • The bare lymphocyte syndrome and the regulation of MHC expression
    • W. Reith, and B. Mach The bare lymphocyte syndrome and the regulation of MHC expression Annu Rev Immunol 19 2001 331 373
    • (2001) Annu Rev Immunol , vol.19 , pp. 331-373
    • Reith, W.1    Mach, B.2
  • 17
    • 0030465562 scopus 로고    scopus 로고
    • Major histocompatibility complex class II deficiency: A clinical review
    • R. Elhasid, and A. Etzioni Major histocompatibility complex class II deficiency: a clinical review Blood Rev 10 1996 242 248
    • (1996) Blood Rev , vol.10 , pp. 242-248
    • Elhasid, R.1    Etzioni, A.2
  • 18
    • 84889064521 scopus 로고    scopus 로고
    • Severe combined immunodeficiency (SCID) in Canadian children: A national surveillance study
    • J. Rozmus, A. Junker, M. Laffin Thibodeau, D. Grenier, S.E. Turvey, and W. Yacoub et al. Severe combined immunodeficiency (SCID) in Canadian children: a national surveillance study J Clin Immunol 33 2013 1310 1316
    • (2013) J Clin Immunol , vol.33 , pp. 1310-1316
    • Rozmus, J.1    Junker, A.2    Laffin Thibodeau, M.3    Grenier, D.4    Turvey, S.E.5    Yacoub, W.6
  • 19
    • 84879888397 scopus 로고    scopus 로고
    • Major histocompatibility complex class II deficiency in Kuwait: Clinical manifestations, immunological findings and molecular profile
    • W. Al-Herz, O. Alsmadi, M. Melhem, M. Recher, F. Frugoni, and L.D. Notarangelo Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile J Clin Immunol 33 2013 513 519
    • (2013) J Clin Immunol , vol.33 , pp. 513-519
    • Al-Herz, W.1    Alsmadi, O.2    Melhem, M.3    Recher, M.4    Frugoni, F.5    Notarangelo, L.D.6
  • 20
    • 81055126777 scopus 로고    scopus 로고
    • Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: A survey of 35 patients
    • M. Quederni, Q. Vincent, P. Frange, F. Touzot, S. Scerra, and M. Bejaoui et al. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients Blood 118 2011 5108 5117
    • (2011) Blood , vol.118 , pp. 5108-5117
    • Quederni, M.1    Vincent, Q.2    Frange, P.3    Touzot, F.4    Scerra, S.5    Bejaoui, M.6
  • 21
    • 84878013097 scopus 로고    scopus 로고
    • Clinical, immunological and genetic findings of a large Tunisian series of major histocompatibility complex class II deficiency patients
    • I. Ben-Mustapha, K. Ben-Farhat, N. Guirat-Dhouib, E. Dhemaied, B. Larguèche, and M. Ben-Ali et al. Clinical, immunological and genetic findings of a large Tunisian series of major histocompatibility complex class II deficiency patients J Clin Immunol 33 2013 865 870
    • (2013) J Clin Immunol , vol.33 , pp. 865-870
    • Ben-Mustapha, I.1    Ben-Farhat, K.2    Guirat-Dhouib, N.3    Dhemaied, E.4    Larguèche, B.5    Ben-Ali, M.6
  • 22
    • 84878530766 scopus 로고    scopus 로고
    • Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome
    • C.Y. Kuo, J. Chase, M. Garcia Lioret, M.R. Stiehm, T. Moore, and M.J. Aguilera et al. Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome J Allergy Clin Immunol 131 2013 1963 1965
    • (2013) J Allergy Clin Immunol , vol.131 , pp. 1963-1965
    • Kuo, C.Y.1    Chase, J.2    Garcia Lioret, M.3    Stiehm, M.R.4    Moore, T.5    Aguilera, M.J.6
  • 24
    • 0027490172 scopus 로고
    • Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
    • V. Steimle, L.A. Otten, M. Zufferey, and B. Mach Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome) Cell 75 1993 135 146
    • (1993) Cell , vol.75 , pp. 135-146
    • Steimle, V.1    Otten, L.A.2    Zufferey, M.3    Mach, B.4
  • 25
    • 84892156965 scopus 로고    scopus 로고
    • CIITA and its dual roles in MHC gene transcription
    • B. Devaiah, and D. Singer CIITA and its dual roles in MHC gene transcription Front Immunol 4 2013 1 6
    • (2013) Front Immunol , vol.4 , pp. 1-6
    • Devaiah, B.1    Singer, D.2
  • 27
    • 33746496632 scopus 로고    scopus 로고
    • Human leukocyte antigen identical hematopoietic stem cell transplantation in major histocompatibility complex class II immunodeficiency: Reduce survival correlated with an increase incidence of acute graft versus host disease and pre-existing viral infections
    • R. Renella, C. Picard, B. Neven, M. Ouachée-Chardin, J.L. Casanova, and F. Le Deist et al. Human leukocyte antigen identical hematopoietic stem cell transplantation in major histocompatibility complex class II immunodeficiency: reduce survival correlated with an increase incidence of acute graft versus host disease and pre-existing viral infections Br J Hematol 134 2006 510 516
    • (2006) Br J Hematol , vol.134 , pp. 510-516
    • Renella, R.1    Picard, C.2    Neven, B.3    Ouachée-Chardin, M.4    Casanova, J.L.5    Le Deist, F.6
  • 29
    • 77952581213 scopus 로고    scopus 로고
    • Allogenic stem cell transplantation using myeloablative and reduced intensity conditioning in patients with major histocompatibility complex class II deficiency
    • H. Al-Mousa, Z. Al-Shammari, A. Al-Ghonaiium, H. Al-Dhekri, S. Al-Muhsen, and B. Al-Saud et al. Allogenic stem cell transplantation using myeloablative and reduced intensity conditioning in patients with major histocompatibility complex class II deficiency Biol Blood Marrow Transplant 16 2010 818 823
    • (2010) Biol Blood Marrow Transplant , vol.16 , pp. 818-823
    • Al-Mousa, H.1    Al-Shammari, Z.2    Al-Ghonaiium, A.3    Al-Dhekri, H.4    Al-Muhsen, S.5    Al-Saud, B.6
  • 30
    • 79957452283 scopus 로고    scopus 로고
    • MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: Case report and review of 68 cases in the literature
    • M. Siepermann, S. Gudowius, K. Beltz, U. Strier, O. Feyen, and A. Troeger et al. MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: case report and review of 68 cases in the literature Pediatr Transplant 15 2011 E80 E86
    • (2011) Pediatr Transplant , vol.15
    • Siepermann, M.1    Gudowius, S.2    Beltz, K.3    Strier, U.4    Feyen, O.5    Troeger, A.6
  • 31
    • 3042721509 scopus 로고    scopus 로고
    • Cellular and gene therapy for major histocompatibility complex class II deficiency
    • F. Matheux, and J. Villaed Cellular and gene therapy for major histocompatibility complex class II deficiency News Physiol Sci 19 2004 154 158
    • (2004) News Physiol Sci , vol.19 , pp. 154-158
    • Matheux, F.1    Villaed, J.2
  • 32
    • 0036852197 scopus 로고    scopus 로고
    • Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome
    • N. Nekrep, N. Jabrane-Ferrat, H. Wolf, M.M. Eibl, M. Geyer, and B.M. Peterlin Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome Nat Immunol 3 2002 1075 1081
    • (2002) Nat Immunol , vol.3 , pp. 1075-1081
    • Nekrep, N.1    Jabrane-Ferrat, N.2    Wolf, H.3    Eibl, M.M.4    Geyer, M.5    Peterlin, B.M.6


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