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referencesuptodate· REFERENCES· item f27_42_28329

REFERENCES Rudolph MG, Stanfield RL, Wilson IA. How TCRs bind MHCs, peptides, and coreceptors. Annu Rev Immunol 2006; 24:419. Goldrath AW, Bevan MJ. Selecting and maintaining a diverse T-cell repertoire. Nature 1999; 402:255. Lanzavecchia A, Sallusto F. Dynamics of T lymphocyte responses: intermediates, effectors, and memory cells. Science 2000; 290:92. Mellman I, Steinman RM. Dendritic cells: specialized and regulated antigen processing machines. Cell 2001; 106:255. Morgan NV, Goddard S, Cardno TS, et al. Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells. J Clin Invest 2011; 121:695. Donato L, de la Salle H, Hanau D, et al. Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis. J Pediatr 1995; 127:895. de la Salle H, Hanau D, Fricker D, et al. Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 1994; 265:237. Teisserenc H, Schmitt W, Blake N, et al. A case of primary immunodeficiency due to a defect of the major histocompatibility gene complex class I processing and presentation pathway. Immunol Lett 1997; 57:183. Moins-Teisserenc HT, Gadola SD, Cella M, et al. Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. Lancet 1999; 354:1598. Maeda H, Hirata R, Chen RF, et al. Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. Immunogenetics 1985; 21:549. Schuurman RK, van Rood JJ, Vossen JM, et al. Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency. Clin Immunol Immunopathol 1979; 14:418. Gadola SD, Moins-Teisserenc HT, Trowsdale J, et al. TAP deficiency syndrome. Clin Exp Immunol 2000; 121:173. De la Salle H, Donato L, Zimmer J. HLA class I deficiencies. In: Primary immunodeficiency diseases: A molecular and genetic approach, 2nd ed, Ochs HD, Smith CIE, Puck JM (Eds), Oxford University Press, New York, NY 2007. p.242. Raghavan M. Immunodeficiency due to defective antigen processing: the molecular basis for type 1 bare lymphocyte syndrome. J Clin Invest 1999; 103:595. Cerundolo V, de la Salle H. Description of HLA class I- and CD8-deficient patients: Insights into the function of cytotoxic T lymphocytes and NK cells in host defense. Semin Immunol 2006; 18:330.

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Raghavan M. Immunodeficiency due to defective antigen processing: the molecular basis for type 1 bare lymphocyte syndrome. J Clin Invest 1999; 103:595. Cerundolo V, de la Salle H. Description of HLA class I- and CD8-deficient patients: Insights into the function of cytotoxic T lymphocytes and NK cells in host defense. Semin Immunol 2006; 18:330. Zimmer J, Andrès E, Donato L, et al. Clinical and immunological aspects of HLA class I deficiency. QJM 2005; 98:719. Caversaccio M, Bonél HM, Carter R, et al. TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. Eur Arch Otorhinolaryngol 2008; 265:1289. Villa-Forte A, de la Salle H, Fricker D, et al. HLA class I deficiency syndrome mimicking Wegener's granulomatosis. Arthritis Rheum 2008; 58:2579. Zimmer J, Donato L, Hanau D, et al. Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome). J Exp Med 1998; 187:117. Reith W, Mach B. The bare lymphocyte syndrome and the regulation of MHC expression. Annu Rev Immunol 2001; 19:331. Villard J, Masternak K, Lisowska-Grospierre B, et al. MHC class II deficiency: a disease of gene regulation. Medicine (Baltimore) 2001; 80:405. Masternak K, Muhlethaler-Mottet A, Villard J, et al. Molecular genetics of the Bare lymphocyte syndrome. Rev Immunogenet 2000; 2:267. Elhasid R, Etzioni A. Major histocompatibility complex class II deficiency: a clinical review. Blood Rev 1996; 10:242. Masternak K, Barras E, Zufferey M, et al. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet 1998; 20:273. van Eggermond MC, Tezcan I, Heemskerk MH, van den Elsen PJ. Transcriptional silencing of RFXAP in MHC class II-deficiency. Mol Immunol 2008; 45:2920. Durand B, Sperisen P, Emery P, et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J 1997; 16:1045. Villard J, Lisowska-Grospierre B, van den Elsen P, et al. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med 1997; 337:748. Nekrep N, Jabrane-Ferrat N, Wolf HM, et al. Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nat Immunol 2002; 3:1075.

referencesuptodate· REFERENCES· item f27_42_28329

Villard J, Lisowska-Grospierre B, van den Elsen P, et al. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N Engl J Med 1997; 337:748. Nekrep N, Jabrane-Ferrat N, Wolf HM, et al. Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nat Immunol 2002; 3:1075. Steimle V, Durand B, Barras E, et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte sydrome). Genes & Development 1995; 9:1021. Prod'homme T, Dekel B, Barbieri G, et al. Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course. Immunogenetics 2003; 55:530. Wiszniewski W, Fondaneche MC, Le Deist F, et al. Mutation in the class II trans-activator leading to a mild immunodeficiency. J Immunol 2001; 167:1787. Klein C, Lisowska-Grospierre B, LeDeist F, et al. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 1993; 123:921. Saleem MA, Arkwright PD, Davies EG, et al. Clinical course of patients with major histocompatibility complex class II deficiency. Arch Dis Child 2000; 83:356. Parvaneh N, Shahmahmoudi S, Tabatabai H, et al. Vaccine-associated paralytic poliomyelitis in a patient with MHC class II deficiency. J Clin Virol 2007; 39:145. Picard C, Fischer A. Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. Immunol Allergy Clin North Am 2010; 30:173. Klein C, Cavazzana-Calvo M, Le Deist F, et al. Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients. Blood 1995; 85:580. Recio MJ, Moreno-Pelayo MA, Kiliç SS, et al. Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol 2007; 178:2556. Alarcon B, Regueiro JR, Arnaiz-Villena A, Terhorst C. Familial defect in the surface expression of the T-cell receptor-CD3 complex. N Engl J Med 1988; 319:1203. Arnaiz-Villena A, Perez-Aciego P, Ballestin C, et al. Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry. A possible CD3 gamma abnormality. Lab Invest 1991; 64:675. Arnaiz-Villena A, Timon M, Corell A, et al. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. N Engl J Med 1992; 327:529.

referencesuptodate· REFERENCES· item f27_42_28329

Arnaiz-Villena A, Perez-Aciego P, Ballestin C, et al. Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry. A possible CD3 gamma abnormality. Lab Invest 1991; 64:675. Arnaiz-Villena A, Timon M, Corell A, et al. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. N Engl J Med 1992; 327:529. Arnaiz-Villena A, Timon M, Rodriguez-Gallego C, et al. T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma. Immunodeficiency 1993; 4:121. Dave VP, Cao Z, Browne C, et al. CD3 delta deficiency arrests development of the alpha beta but not the gamma delta T cell lineage. EMBO J 1997; 16:1360. Le Deist F, Thoenes G, Corado J, et al. Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation. Eur J Immunol 1991; 21:1641. Haks MC, Krimpenfort P, Borst J, Kruisbeek AM. The CD3gamma chain is essential for development of both the TCRalphabeta and TCRgammadelta lineages. EMBO J 1998; 17:1871. Letourneur F, Klausner RD. Activation of T cells by a tyrosine kinase activation domain in the cytoplasmic tail of CD3 epsilon. Science 1992; 255:79. Regueiro JR, Arnaiz-Villena A, Ortiz de Landázuri M, et al. Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. Lancet 1986; 1:1274. Regueiro JR, Perez-Aeiego P, Aparicio P, et al. Low IgG2 and polysaccharide response in a T cell receptor expression defect. Eur J Immunol 1990; 20:2411. Soudais C, de Villartay JP, Le Deist F, et al. Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet 1993; 3:77. Zapata DA, Pacheco-Castro A, Torres PS, et al. CD3 immunodeficiencies. Immunol Allergy Clin North Am 2000; 20:1. Roifman CM. CD3 delta immunodeficiency. Curr Opin Allergy Clin Immunol 2004; 4:479. Notarangelo LD, Sorensen R. Is it necessary to identify molecular defects in primary immunodeficiency disease? J Allergy Clin Immunol 2008; 122:1069. van Tol MJ, Sanal O, Yel L, et al. CD3gamma chain deficiency leading to a cellular immunodeficiency with mild clinical presentation. The Immunologist 1997; 1:41.

referencesuptodate· REFERENCES· item f27_42_28329

Roifman CM. CD3 delta immunodeficiency. Curr Opin Allergy Clin Immunol 2004; 4:479. Notarangelo LD, Sorensen R. Is it necessary to identify molecular defects in primary immunodeficiency disease? J Allergy Clin Immunol 2008; 122:1069. van Tol MJ, Sanal O, Yel L, et al. CD3gamma chain deficiency leading to a cellular immunodeficiency with mild clinical presentation. The Immunologist 1997; 1:41. de Saint Basile G, Geissmann F, Flori E, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest 2004; 114:1512. Takada H, Nomura A, Roifman CM, Hara T. Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene. Eur J Pediatr 2005; 164:311. Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med 2003; 349:1821. Gil J, Busto EM, Garcillán B, et al. A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. J Clin Invest 2011; 121:3872. Rieux-Laucat F, Hivroz C, Lim A, et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med 2006; 354:1913. Roberts JL, Lauritsen JP, Cooney M, et al. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood 2007; 109:3198. Fischer A, de Saint Basile G, Le Deist F. CD3 deficiencies. Curr Opin Allergy Clin Immunol 2005; 5:491. Roifman CM, Grunebaum E, Dalal I, Notarangelo L. Matched unrelated bone marrow transplant for severe combined immunodeficiency. Immunol Res 2007; 38:191. Grunebaum E, Mazzolari E, Porta F, et al. Bone marrow transplantation for severe combined immune deficiency. JAMA 2006; 295:508. Marcus N, Takada H, Law J, et al. Hematopoietic stem cell transplantation for CD3δ deficiency. J Allergy Clin Immunol 2011; 128:1050. Goldman FD, Ballas ZK, Schutte BC, et al. Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest 1998; 102:421. Hubert P, Bergeron F, Ferreira V, et al. Defective p56Lck activity in T cells from an adult patient with idiopathic CD4+ lymphocytopenia. Int Immunol 2000; 12:449. Sawabe T, Horiuchi T, Nakamura M, et al. Defect of lck in a patient with common variable immunodeficiency. Int J Mol Med 2001; 7:609.

referencesuptodate· REFERENCES· item f27_42_28329

Goldman FD, Ballas ZK, Schutte BC, et al. Defective expression of p56lck in an infant with severe combined immunodeficiency. J Clin Invest 1998; 102:421. Hubert P, Bergeron F, Ferreira V, et al. Defective p56Lck activity in T cells from an adult patient with idiopathic CD4+ lymphocytopenia. Int Immunol 2000; 12:449. Sawabe T, Horiuchi T, Nakamura M, et al. Defect of lck in a patient with common variable immunodeficiency. Int J Mol Med 2001; 7:609. Nervi S, Atlan-Gepner C, Kahn-Perles B, et al. Specific deficiency of p56lck expression in T lymphocytes from type 1 diabetic patients. J Immunol 2000; 165:5874. Hauck F, Randriamampita C, Martin E, et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol 2012; 130:1144. Gorska MM, Alam R. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood 2012; 119:1399. Topic 3956 Version 13.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.3 - C21.34 Licensed to: Morehouse School of Medicine | Support Tag: [1004-200.215.4.194-785DB895A1-S473950.14]