Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity

Article Abstract:

A mutation in the gene for the Fas protein appears to be responsible for the Canale-Smith syndrome. This syndrome is characterized by a proliferation of white blood cells called lymphocytes and an autoimmune reaction against red blood cells and platelets. Researchers studied 4 people with the syndrome and their families. Genetic analysis revealed that all 4 had a mutation in the Fas gene, which codes for a protein that induces natural cell death. The mutation would interfere with cell death, which would lead to lymphocyte proliferation.

Health aspects, Immunoproliferative disorders, Cell death

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Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma

Article Abstract:

A 27-year old man with the autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma had heterozygous mutations in the Fas and perforin (Prf1) genes where the Fas mutation was inherited from his healthy father and the Prf1 mutation from his healthy mother. The combined effect of the two mutant genes may have contributed to the development of the autoimmune lymphoproliferative syndrome and lymphoma in this patient.

Case studies, Evaluation

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Autoimmune lymphoproliferative syndrome with somatic Fas mutations

Article Abstract:

Six children with autoimmune lymphoproliferative syndrome (ALPS) were studied whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro. The results reveal that somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death.

Science & research, Research

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