Page 158 - Clinical Immunology_ Principles and Practice ( PDFDrive )

140 ParT ONE Principles of Immune Response

Human Genetic Disease associations Common variant associated with inflammatory bowel disease through GWAS X-linked ectodermal dysplasia

Phenotype associated With Deficiency Defective NK-mediated tumor eradication Defective CD8 T-cell costimulation Reduced immunopathology in T-cell-dependent autoimmune diseases

Phenotype associated With Over Expression Overexpression in T cells produces prolonged T-cell survival and enhanced TI-2 responses SLE-like systemic autoimmunity and arthritis inflammation, T-cell hyperactivation, Th1 bias T-cell activation, IL-13 dependent small intestinal hyperplasia and inflammation

Key Functions T-cell costimulation Dendritic cell apoptosis, NK-cell mediated tumor cell killing Mediates osteoclast formation and bone remodeling. Stimulation of APC Potential role in inflammation and lymphocyte function Promotes T-independent type-2 responses through interactions with TACI Promotes B-cell maturation, plasmablast survival CD8 T-cell and APC costimulation Ligand for DR3 (TNFRSF25) on lymphocytes

OMIM ID 606182 603598 602642 602695 604472 603969 604520 604052 603898 305100

TNF Superfamily Cytokines—cont’d

Binds to receptor(s) 4-1BB (9) DR4 (10A), DR5 (10B), DcR1 (10 C), DcR2 (10D) RANK (11A) TWEAK-R (12A) TACI (13B), BCMA (17) TACI (3B), BAFF-R (13 C), BCMA (17) HVEM (14), LT-βR (3), DcR3 (6B) DR3 (25) GITR (18) EDAR

TL2, APO2L, TRAIL, ODF, OPGL, sOdf, RANKL, TRANCE, TALL1, THANK, LTg, TR2, HVEML, TL6, AITRL, GITRL, EDA, HED, EDA1, XHED, XLHED

aliases 4-1BB-L Apo-2 L hRANKL2 APO3L APRIL, TALL2, TWE-PRIL BAFF, BLYS, ZTNF4 LIGHT TL1, VEGI hGITRL

TABLE 9.2 Common Name Symbol 4-1-BB Ligand TNFSF9 TRAIL (TNF-like TNFSF10 apoptosis inducing ligand) RANK-L TNFSF11 TWEAK TNFSF12 APRIL TNFSF13 BlyS, BAFF TNFSF13B LIGHT TNFSF14 TL1A TNFSF15 GITR Ligand TNFSF18 Ectodermal ED1 dysplasia 1, anhidrotic (EDA1)