Table 3.
Diseases caused by mutation of TNF superfamily, receptors, and adaptors
| Gene | Study | Disease |
|---|---|---|
| Cytokine | ||
| TNF-β (LT-α) | Human | Cerebral infarction68 |
| TNF-α | Human | Cerebral infarction68 |
| CD40L | Human | X-linked hyper-IgM syndrome132 |
| FasL | Mouse | Generalized lymphoproliferative disease133 |
| EDA-A1 | Human | Ectodermal dysplasias88 |
| EDA-A2 | Dog | X-linked hypohidrotic ectodermal dysplasia134 |
| Receptor | ||
| TNFR1 | Human | TNFR1-associated periodic syndrome135 |
| Human | TRAPS associated with SLE67 | |
| Human | Crohn disease136 | |
| TNFR2 | Human | Crohn disease136 |
| Fas | Mouse | Autoimmune lymphoproliferative syndrome137 |
| Human | Generalized lymphoproliferative disease133 | |
| RANK | Human | Familial expansile osteolysis138 |
| OPG | Human | Idiopathic hyperphosphatasia139 |
| Human | Juvenile Paget disease140 | |
| TACI | Human | Common variable immunodeficiency141 |
| BAFFR | Mouse | Lupus-like syndrome (B cell−mediated autoimmunity)142 |
| EDAR | Human | Hypohidrotic ectodermal dysplasia143 |
| Adaptors | ||
| TRAF3 | Human | Herpes simplex encephalitis144 |
| TRAF6 | Mouse | Hypohidrotic ectodermal dysplasia119 |
| EDARADD | Mouse | Hypohidrotic ectodermal dysplasia130 |
| Act1 | Mouse | B cell−mediated autoimmune phenotypes131 |
RANK indicates receptor activator of NF-κB; OPG, osteoprotegerin; EDAR, EDA receptor; and EDARADD, ectodysplasin-A receptor-associated adapter protein.