Abstract

The Patient Core will perform the diagnosis and classification of patients who will serve as material for the studies in Project 1 (Terhorst), Project 2 (Dr. Geha) and Project 3 (Dr. Alt) and will prepare B cell lines, T cell lines and fibroblasts from patients with X-linked hyper IgM syndrome (HIGMX-1), X-linked agammaglobulinemia (XLA), autosomal recessive severe combined immunodeficiency (SCID), patients with defective TCR/CD3 expression and patients with the Hyper IgE syndrome. The Patient Core will also generate the necessary antibodies against CD40 ligand and atk/bpk for the patient studies of Alt and Geha and will identify carriers and make intrauterine diagnoses in families with HIGMX-1, XLA, and SCID. The FACS core will examine CD40 ligand (CD40L) expression in the thymus and in young children and will assess Cd40L expression in Transient Hypogammaglobulinemia of Infancy (THI), a disease with a delay in isotype switching. The FACS core will analyze lymphocytes from patients with HIGMX-1, XLA, SCID and THI and will perform all the phenotypic analyses of lymphocytes from knockout and transgenic mice generated in all 3 projects of C. Terhorst, R. Geha and F. Alt.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Type
Research Program Projects (P01)
Project #
5P01AI035714-03
Application #
5205717
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
1996
Total Cost
Indirect Cost

  Publications

Sayos, J; Wu, C; Morra, M et al. (2017) Pillars Article: The X-Linked Lymphoproliferative Disease Gene Product SAP Regulates Signals Induced through the Co-Receptor SLAM. Nature. 1998. 395: 462-469. J Immunol 199:1534-1541
Chaudhary, Anu; Leite, Mara; Kulasekara, Bridget R et al. (2016) Human Diversity in a Cell Surface Receptor that Inhibits Autophagy. Curr Biol 26:1791-801
Jabri, Bana; Terhorst, Cox (2014) Editorial overview: Autoimmunity. Curr Opin Immunol 31:v-vii
Sintes, Jordi; Cuenca, Marta; Romero, Xavier et al. (2013) Cutting edge: Ly9 (CD229), a SLAM family receptor, negatively regulates the development of thymic innate memory-like CD8+ T and invariant NKT cells. J Immunol 190:21-6
Detre, Cynthia; Keszei, Marton; Garrido-Mesa, Natividad et al. (2012) SAP expression in invariant NKT cells is required for cognate help to support B-cell responses. Blood 120:122-9
McDonald, Douglas R; Massaad, Michel J; Johnston, Alicia et al. (2010) Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 126:1304-5.e3
McDonald, Douglas R; Goldman, Frederick; Gomez-Duarte, Oscar D et al. (2010) Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients. J Allergy Clin Immunol 126:332-7, 337.e1-2
Detre, Cynthia; Keszei, Marton; Romero, Xavier et al. (2010) SLAM family receptors and the SLAM-associated protein (SAP) modulate T cell functions. Semin Immunopathol 32:157-71
Sintes, Jordi; Romero, Xavier; de Salort, Jose et al. (2010) Mouse CD84 is a pan-leukocyte cell-surface molecule that modulates LPS-induced cytokine secretion by macrophages. J Leukoc Biol 88:687-97
Diamond, Betty; Cunningham-Rundles, Charlotte; Fischer, Alain et al. (2010) Josiah F. Wedgwood (1950-2009). J Allergy Clin Immunol 125:506

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