: 01()9'cop novel diagnostic techniques and targeted treatments. Studies of primary human B cell defects have led to an appreciation of specific stages of B cell development. Commitment to the B cell lineage occurs early in lymphogenesis with selected gene rearrangements in Ig heavy chain genes;these initiate the process of antigen recognition, a hail mark of adaptive immunity. Further maturation of B cells is characterized by expansion, differentiation, trafficking to specific compartments in peripheral lymph nodes, selection of appropriate antigen receptors, the generation of B cell memory and finally population of mucosal sites. Coupled with the expansion of B cell populations, is the requirement for deletion of self-reactive clones. All of these events are intertwined, but the nature of these interactions are incompletely understood. The overall hypothesis of this Program Project Grant is that selected genetic, cellular and micro-environmental influences are critical to normal B cell development and that defects in any of these processes can result in immune deficiency. This Program Project selects four specific stages of B cell immunity to investigate, Project 1: Mechanisms .-. 'C3 _;c. 3?'o -5"""""""" ?;N (D-? The study of well defined human genetic disease is a powerful tool in the elucidation of normal physiologic events. This is most evident in the case of the primary immune deficiency diseases. Characterization of specific immune deficiency states has led to remarkable advances in immunology, catalyzing greater understanding of these diseases, and sparking the development of Ana)- ?4? cep II) of V(D)J mediated immunodeficiencies;Project 2: Investigating blocks to B cell memory;Project 3: Regulation and function of IgA production in the intestinal mucosa;Project 4: Loss of B cell tolerance in primary immune deficiency. The development of normal protective immunity is essential for understanding vaccination, disease prevention, transplantation, and autoimmunity;yet how these immune responses are developed and controlled, require further elucidation. At Mount Sinai we have a unique and valuable resource in our Primary Immune Deficiency Program;this allows for careful study of selected stages of human B cell biology, the subject of this Program Project MN3 Grant. ?-c PHS 398/2590 (Rev. 11/07) Page - Continuation Format Page '-' .-? ..- ... )oa' >."""""""", c=0
| Gutzeit, Cindy; Chen, Kang; Cerutti, Andrea (2018) The enigmatic function of IgD: some answers at last. Eur J Immunol 48:1101-1113 |
| Gies, Vincent; Schickel, Jean-Nicolas; Jung, Sophie et al. (2018) Impaired TLR9 responses in B cells from patients with systemic lupus erythematosus. JCI Insight 3: |
| Bousfiha, Aziz; Jeddane, Leïla; Picard, Capucine et al. (2018) The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 38:129-143 |
| Nair, Shiny; Sng, Joel; Boddupalli, Chandra Sekhar et al. (2018) Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 3: |
| Mayor, Paul C; Eng, Kevin H; Singel, Kelly L et al. (2018) Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol 141:1028-1035 |
| Ho, Hsi-En; Byun, Minji; Cunningham-Rundles, Charlotte (2018) Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome. J Clin Immunol 38:454-456 |
| Schwab, Charlotte; Gabrysch, Annemarie; Olbrich, Peter et al. (2018) Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol 142:1932-1946 |
| Smith, Tukisa D; Cunningham-Rundles, Charlotte (2018) Detection of anti-glutamic acid decarboxylase antibodies in immunoglobulin products. J Allergy Clin Immunol Pract 6:260-261 |
| Petersheim, Daniel; Massaad, Michel J; Lee, Saetbyul et al. (2018) Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. J Allergy Clin Immunol 141:1060-1073.e3 |
| Bucciol, Giorgia; Moens, Leen; Bosch, Barbara et al. (2018) Lessons learned from the study of human inborn errors of innate immunity. J Allergy Clin Immunol : |
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