Autoimmune lymphoproliferative syndrome, type Ia

Defects in TNFSF6 are a cause of autoimmune lymphoproliferative syndrome (ALPS). 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

ALPS1A, ALPS Ia, ALPS type Ia

Lymphoproliferative syndrome with autoimmunity

Canale-Smith syndrome (CSS)

Apoptosis mediator APO-1/Fas defects

defective CD95

Classification

  • Defects in lymphocyte apoptosis
    • Autoimmune lymphoproliferative syndrome

Inheritance

Autosomal dominant/Autosomal recessive (rare severe cases)

OMIM

#601859 Autoimmune lymphoproliferative syndrome

#601859 Autoimmune lymphoproliferative syndrome, type II

*134637 Tumor necrosis factor receptor superfamily, member 6; TNFRSF6

*601762 Caspase 10, apoptosis-related cysteine protease; CASP10

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Apopotosis mediator APO-1/Fas defect

Incidence

Incidence unknown.