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Updated: May 31, 2026

Determination of the Relative Potency of an Anti-TNF Monoclonal Antibody (mAb) by Neutralizing TNF Using an In Vitro Bioanalytical Method
16:07

Determination of the Relative Potency of an Anti-TNF Monoclonal Antibody (mAb) by Neutralizing TNF Using an In Vitro Bioanalytical Method

Published on: September 16, 2017

Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease

Adrian A Lobito1, Tanit L Gabriel, Jan Paul Medema

  • 1Protein Sciences, Catalyst Biosciences, 260 Littlefield Avenue, South San Francisco, CA 94080, USA.

Trends in Molecular Medicine
|July 5, 2011
PubMed

Insights

Mutations in tumor necrosis factor (TNF) and TNF receptor (TNFR) superfamilies cause diseases like ALPS, CVID, TRAPS, and HED. Studying these mutations reveals normal protein function and guides new therapies.

Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • The tumor necrosis factor (TNF) and TNF receptor (TNFR) superfamilies are crucial for immune responses and cellular processes.
  • Mutations within these superfamilies lead to various human diseases, offering insights into their normal functions.

Purpose of the Study:

  • To review how mutations in TNF and TNFR superfamilies illuminate their roles in health and disease.
  • To highlight specific genetic defects causing autoimmune lymphoproliferative syndrome (ALPS), common variable immunodeficiency (CVID), tumor necrosis factor receptor associated periodic syndrome (TRAPS), and hypohidrotic ectodermal dysplasia (HED).

Main Methods:

  • Review of literature on mutations in FAS, TACI, TNFR1, EDA1/EDAR genes.
  • Analysis of disease mechanisms stemming from these mutations.
  • Correlation of mutation-driven pathology with normal receptor-ligand interactions.

Main Results:

  • FAS mutations cause autoimmune lymphoproliferative syndrome (ALPS), impacting lymphocyte homeostasis.
  • TACI mutations are linked to common variable immunodeficiency (CVID), affecting B-cell development.
  • TNFR1 mutations result in tumor necrosis factor receptor associated periodic syndrome (TRAPS), a form of autoinflammation.
  • EDA1/EDAR mutations lead to hypohidrotic ectodermal dysplasia (HED), affecting ectodermal development.

Conclusions:

  • Mutations in TNF and TNFR superfamilies reveal critical insights into receptor-ligand function and immune regulation.
  • Understanding these genetic defects provides a basis for developing targeted therapeutic strategies for related diseases.

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