Defects of class-switch recombination

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Presentation transcript:

Defects of class-switch recombination Luigi D. Notarangelo, MD, Gaetana Lanzi, PhD, Sophie Peron, Anne Durandy, MD, PhD Journal of Allergy and Clinical Immunology Volume 117, Issue 4, Pages 855-864 (April 2006) DOI: 10.1016/j.jaci.2006.01.043 Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 1 A, Molecular mechanisms involved in generation of the primary and secondary antibody repertoire. B, Schematic representation of DNA modifications at S and V Ig gene regions during CSR and SHM. The roles of AID and UNG in this process are shown. Molecular defects involved in CSR defects, variably associated with disturbed SHM, are shown in red. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 2 Schematic representation of CD40L-CD40 interaction and its effects on CSR and SHM. Activated CD4+ T cells in the lymph nodes interact with CD40-expressing B cells and secrete ILs that interact with cytokine-specific B-cell receptors (IL-R). CD40-mediated signaling activates the NF-κB signaling pathway and ultimately results in the expression of AID and UNG. Mutations that affect CD40-mediated B-cell activation result in some of the forms of hyper-IgM syndrome. MHC-II, Major histocompatibility complex of class II; TCR, T-cell receptor; CD40L-ID, X-linked immunodeficiency caused by CD40L defect; CD40-ID, immunodeficiency caused by CD40 deficiency; XL-EDA-ID, X-linked immunodeficiency with ectodermal dystrophy; AID-ID, immunodeficiency caused by AID deficiency; UNG-ID, immunodeficiency caused by UNG deficiency; PC, plasma cell. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 3 Schematic representation of the CD40L gene and of mutations identified in European patients with X-linked immunodeficiency with hyper-IgM (CD40L deficiency). Boxes identify the various exons of the gene. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 4 Schematic representation of the CD40 gene and of disease-causing mutations identified in patients with CD40 deficiency. Boxes identify the various exons of the gene. TNFR, Tumor necrosis factor receptor. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 5 Schematic representation of the AID gene and of disease-causing mutations identified in patients with hyper-IgM syndrome caused by AID deficiency. Boxes identify the various exons of the gene. NLS, Nuclear localization signal; NES, nuclear export signal. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions

Fig 6 Schematic representation of the UNG gene and of disease-causing mutations identified in patients with hyper-IgM syndrome caused by UNG deficiency. Two different isoforms of the UNG protein (mitochondrial UNG1 and nuclear UNG2) are shown, resulting from use of distinct promoters and alternative splicing. Journal of Allergy and Clinical Immunology 2006 117, 855-864DOI: (10.1016/j.jaci.2006.01.043) Copyright © 2006 American Academy of Allergy, Asthma and Immunology Terms and Conditions