Autoimmune lymphoproliferative syndrome, type 1B

Defects in TNFSF6 are a cause of autoimmune lymphoproliferative syndrome (ALPS), a childhood syndrome. There are several types of ALPS: type I ALPS (a and b) is associated with Fas and Fas ligand defects and type II ALPS is caused by defects in other apoptosis genes (CASP10). ALPS can be caused by autosomal recessive (ALPS 0) or by autosomal dominant inheritance of Fas mutations (ALPS Ia) and Fas ligand (ALPS Ib).

Alternative names

ALPS1B, ALPS Ib, ALPS type Ib

APO-1 ligand/Fas ligand defect type Ib,defective CD178

Classification

  • Defects in lymphocyte apoptosis
    • Autoimmune lymphoproliferative syndrome

Inheritance

Autosomal dominant

OMIM

#601859 Autoimmune lymphoproliferative syndrome

*134638 Tumor necrosis factor ligand superfamily, member 6; TNFSF6

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Apopotosis mediator APO-1/Fas defects

Incidence

Incidence unknown.