Page 160 - Clinical Immunology_ Principles and Practice ( PDFDrive )

142 ParT ONE Principles of Immune Response

Human Genetic Diseases Loss-of-function mutations associated with familial common variable immune deficiency (CVID) Locus associated with RA and ulcerative colitis in GWAS Ectodermal dysplasia

TNF Superfamily receptors (receptors in Italics Have a C-Terminal Death Domain—cont’d

Phenotype associated With Deficiency Osteopetrosis caused by osteoclast deficiency, no lymph nodes, impaired B-cell development Osteoporosis, arterial calcification Decreased TI-2 B-cell responses, but B-cell hyperplasia and autoimmunity Impaired survival of immature transitional B cells Defective sensory neuron innervation; impaired heat sensitivity Apparently no B-cell phenotype T-cell hyperactivation Enhanced T- and B-cell activation Imp

Key Functions Transmembrane decoy receptor, interferes with TRAIL function Mediates DC costimulation and osteoclast maturation and activation Soluble decoy receptor for RANK May inhibit some of the pro-survival effects of BAFF-R Nerve growth factor (NGF) receptor - evolutionary outlier as NGF not classic TNF family molecule T-cell costimulation, marker for CD4 + CD25 + regulatory T cells (Tregs), modulates Treg function Similar to ectodyspl

OMIM ID 603614 603499 602643 605914 604907 606269 602746 162010 109545 603905 606122 605732 603366 604095 300276

Binds to Ligand(s) TRAIL (10) RANKL (11) TRAIL (10), RANKL (11) TWEAK (12) APRIL (13), BAFF (13B) BAFF (13B) LIGHT (14), herpes viruses NGF (not a TNF family member) APRIL (13), BAFF (13B) GITRL (18) TL1A (15) E1 EDA-A2

DCR2, TRUNDD, OFE, ODFR, PDB2, RANK, TRANCER OPG, TR1, OCIF, MGC29565 FN14, TWEAKR BAFF/BLyS receptor 3 TR2, ATAR, HVEA, HVEM, LIGHTR TNFRSF16, p75(NTR) AITR, GITR, GITR-D TROY, TRADE, TAJ-alpha DR3, TR3, DDR3, LARD, APO-3, TRAMP, WSL-1, WSL-LR DL, ED3, ED5, ED1R, EDA3, EDA-A1R EDAA2R, EDA-A2R

aliases TRAILR4 TACI BCM FLJ14993 BM-018

Common Name(s) Decoy receptor 2 (Receptor activator of NF-κ B) RANK Osteoprotegerin (OPG) TWEAK-receptor TACI BAFF receptor (BAFF-R) Herpes virus entry mediator (HVEM) NGF-R B-cell maturation antigen (BCMA) Glucocorticoid- induced TNF receptor (GITR) Toxicity and JNK inducer (TAJ) RELT Death Receptor 6 (DR6) Death Receptor 3 (DR3) Ectodysplasin 1, anhidrotic receptor XEDAR: ectodysplasin A2 isoform receptor LN, ly

TABLE 9.3 Symbol TNFRSF10D TNFRSF11A TNFRSF11B TNFRSF12A TNFRSF13B TNFRSF13C TNFRSF14 TNFRSF16 TNFRSF17 TNFRSF18 TNFRSF19 TNFRSF19L TNFRSF21 TNFRSF25 EDAR XEDAR