Autoimmune lymphoproliferative syndrome 1B

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Web Resources for Autoimmune lymphoproliferative syndrome 1B
Other Names
ALPS1B
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Wikipedia on Autoimmune lymphoproliferative syndrome 1B (Less technical, ? quality control)

The FASLG gene at 1q24.3 codes for the FAS ligand 281 amino acid pro-peptide tumour necrosis factor ligand superfamily member 6. This is the cytokine that binds to tumour necrosis factor receptor superfamily member 6, a receptor that transduces the apoptotic signal into cells. It is cleaved into:

  • Tumour necrosis factor ligand superfamily member 6, membrane form (tumor necrosis factor ligand superfamily member 6, membrane form)
  • Tumour necrosis factor ligand superfamily member 6, soluble form (tumor necrosis factor ligand superfamily member 6, soluble form, receptor-binding FasL ectodomain, soluble Fas ligand, sFasL)
  • ADAM10-processed FasL form (APL)
  • FasL intracellular domain (FasL ICD, SPPL2A-processed FasL form, SPA

Autoimmune lymphoproliferative syndrome 1B (ALPS1B OMIM:601859) is caused by mutations of FASLG. It is a disorder of apoptosis with autoreactive lymphocytes causing non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune haemolytic anaemia, thrombocytopenia and neutropenia.

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