Thymic function in MHC class II-deficient patients

Journal of Allergy and Clinical Immunology

Volumn 131, Issue 3, 2013, Pages 831-839

  Lev, Atar ^a   Simon, Amos J ^a   Broides, Arnon ^b   Levi, Jacob ^b   Garty, Ben Zion ^a   Rosenthal, Ester ^a   Amariglio, Ninette ^a   Rechavi, Gideon ^a   Somech, Raz ^a,c  

^a TEL AVIV UNIVERSITY   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

immunodeficiency; MHC class II; neonatal screening; severe combined immunodeficiency; T cell receptor excision circle (TREC); T cell receptor repertoire

Indexed keywords

DNA; GENOMIC DNA; MITOGENIC AGENT; T CELL RECEPTOR EXCISION CIRCLE; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN; T LYMPHOCYTE RECEPTOR DELTA CHAIN; T LYMPHOCYTE RECEPTOR GAMMA CHAIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BARE LYMPHOCYTE SYNDROME; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELL MATURATION; CELL SELECTION; CELLULAR IMMUNODEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DRIED BLOOD SPOT TESTING; FLOW CYTOMETRY; GENE REARRANGEMENT; HUMAN; HUMAN TISSUE; IN VITRO STUDY; INFANT; LYMPHOCYTE CLONE; LYMPHOCYTE COUNT; NEWBORN SCREENING; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; T LYMPHOCYTE RECEPTOR GENE; THYMUS FUNCTION;

ADULT; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; INFANT; LEUKOCYTES, MONONUCLEAR; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; THYMUS GLAND; YOUNG ADULT;

EID: 84875221248     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2012.10.040     Document Type: Article

References (25)

1. J.M. Waldburger, K. Masternak, A. Muhlethaler-Mottet, J. Villard, M. Peretti, and S. Landmann Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression Immunol Rev 178 2000 148 165
2. C. Klein, M. Cavazzana-Calvo, F. Le Deist, N. Jabado, M. Benkerrou, and S. Blanche Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients Blood 85 1995 580 587
3. K. Masternak, A. Muhlethaler-Mottet, J. Villard, M. Peretti, and W. Reith Molecular genetics of the Bare lymphocyte syndrome Rev Immunogenet 2 2000 267 282
4. C. Klein, B. Lisowska-Grospierre, F. LeDeist, A. Fischer, and C. Griscelli Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome J Pediatr 123 1993 921 928
5. D. Canioni, N. Patey, B. Cuenod, M. Benkerrou, and N. Brousse Major histocompatibility complex class II deficiency needs an early diagnosis: report of a case Pediatr Pathol Lab Med 17 1997 645 651
6. A. Lev, N. Amariglio, Y. Levy, Z. Spirer, Y. Anikster, and G. Rechavi Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia Clin Immunol 133 2009 375 381
7. J.M. Routes, W.J. Grossman, J. Verbsky, R.H. Laessig, G.L. Hoffman, and C.D. Brokopp Statewide newborn screening for severe T-cell lymphopenia JAMA 302 2009 2465 2470
8. N. Amariglio, A. Lev, A. Simon, E. Rosenthal, Z. Spirer, and O. Efrati Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency Pediatr Res 67 2010 211 216
9. J.J. Van Dongn, A.W. Langerak, M. Brüggemann, P.A. Evans, M. Hummel, and F.L. Lavender Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombination in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936 Leukemia 17 2003 2257 2317
10. M.L. Markert, M.J. Alexieff, J. Li, M. Sarzotti, D.A. Ozaki, and B.H. Devlin Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases J Allergy Clin Immunol 113 2004 734 741
11. N. Amariglio, A. Klein, L. Dagan, A. Lev, S. Padeh, and G. Rechavi T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype J Clin Immunol 31 2011 1021 1028
12. T. Prod'homme, B. Dekel, G. Barbieri, B. Lisowska-Grospierre, R. Katz, and D. Charron Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course Immunogenetics 55 2003 530 539
13. R. Somech, A.J. Simon, A. Lev, I. Dalal, Z. Spirer, and I. Goldstein Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells J Allergy Clin Immunol 124 2009 793 800
14. C.H. Chang, S. Guerder, S.C. Hong, W. van Ewijk, and R.A. Flavell Mice lacking the MHC class II transactivator (CIITA) show tissue-specific impairment of MHC class II expression Immunity 4 1996 167 178
15. S.J. Yang, S. Ahn, C.S. Park, K.L. Holmes, J. Westrup, and C.H. Chang The quantitative assessment of MHC II on thymic epithelium: implications in cortical thymocyte development Int Immunol 18 2006 729 739
16. F. Matheux, and J. Villard Cellular and gene therapy for major histocompatibility complex class II deficiency News Physiol Sci 19 2004 154 158
17. J. Henwood, M.C. van Eggermond, A.H. van Boxel-Dezaire, R. Schipper, M. den Hoedt, and A. Peijnenburg Human T cell repertoire generation in the absence of MHC class II expression results in a circulating CD4+CD8- population with altered physicochemical properties of complementarity-determining region 3 J Immunol 156 1996 895 906
18. R. Somech T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders Curr Opin Allergy Clin Immunol 11 2011 517 524
19. J.M. Puck Neonatal screening for severe combined immunodeficiency Curr Opin Pediatr 23 2011 667 673
20. Y. Morinishi, K. Imai, N. Nakagawa, H. Sato, K. Horiuchi, and Y. Ohtsuka Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthrie cards J Pediatr 155 2009 829 833
21. R.H. Buckley The long quest for neonatal screening for severe combined immunodeficiency J Allergy Clin Immunol 129 2012 597 604
22. C.M. Roifman, R. Somech, F. Kavadas, L. Pires, A. Nahum, and I. Dalal Defining combined immunodeficiency J Allergy Clin Immunol 130 2012 177 183
23. M.A. Saleem, P.D. Arkwright, E.G. Davies, A.J. Cant, and P.A. Veys Clinical course of patients with major histocompatibility complex class II deficiency Arch Dis Child 83 2000 356 359
24. H. Al-Mousa, Z. Al-Shammari, A. Al-Ghonaium, H. Al-Dhekri, S. Al-Muhsen, and B. Al-Saud Allogeneic 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
25. M. Ouederni, Q.B. Vincent, P. Frange, F. Touzot, S. Scerra, and M. Bejaoui Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients Blood 118 2011 5108 5118