Mutation in Fas Ligand Causes Autoimmune Lymphoproliferative Syndrome Type Ib
Author Information
Author(s): Bi Lilia L, Pan George, Atkinson T Prescott, Zheng Lixin, Dale Janet K, Makris Christopher, Reddy Vishnu, McDonald Jay M, Siegel Richard M, Puck Jennifer M, Lenardo Michael J, Straus Stephen E
Primary Institution: Center for Biologics Evaluation and Research, FDA, Rockville, Maryland, USA
Hypothesis
How does a heterozygous mutation in the Fas ligand gene lead to autoimmune lymphoproliferative syndrome (ALPS) Type Ib?
Conclusion
A mutation in the Fas ligand gene can interfere with normal apoptosis and lead to the development of ALPS Type Ib.
Supporting Evidence
- Patients with ALPS have defects in apoptosis due to mutations in the Fas pathway.
- Identified mutations in the Fas ligand gene can lead to dominant-negative effects on apoptosis.
- Clinical features of ALPS include chronic lymphadenopathy and splenomegaly.
Takeaway
A change in a gene that helps cells die can cause a disease where the body makes too many immune cells, which can lead to health problems.
Methodology
The study involved sequencing the Fas ligand gene in ALPS patients and assessing the effects of identified mutations on apoptosis.
Limitations
The study primarily focused on a limited number of patients and may not represent all cases of ALPS.
Participant Demographics
The study included 240 ALPS patients, primarily from families with a history of the syndrome.
Digital Object Identifier (DOI)
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