Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

@article{Fisher1995DominantIF,
  title={Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome},
  author={Galen H Fisher and Fredric J Rosenberg and Stephen E. Straus and Janet K. Dale and Lindsay A. Middelton and Albert Y Lin and Warren Strober and Michael J. Lenardo and Jennifer M. Puck},
  journal={Cell},
  year={1995},
  volume={81},
  pages={935-946}
}
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Autoimmune lymphoproliferative syndrome with somatic Fas mutations.
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Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death.
A genetic disorder of lymphocyte apoptosis involving the fas pathway: The autoimmune lymphoproliferative syndrome
TLDR
The clinical features of ALPS reveal the importance of the Fas apoptotic pathway in maintaining lymphocyte homeostasis and protecting against autoimmunity and lymphoid malignancy.
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
TLDR
The location of mutations within APT1 strongly influences the development and the severity of ALPS, with dominant inhibition of apoptosis much more pronounced in mutants affecting the intracellular, versus extracellular, portion of the Fas receptor.
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions
TLDR
The ALPS-FAS was the first description of a monogenic cause of autoimmunity, but its non-Mendelian expression remained elusive until the description of somatic and germline mutations in ALPS patients, bringing new information on the role of this apoptotic pathway in controlling the adaptive immune response in humans.
Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.
TLDR
It is speculated that the mutation in the death domain prevents the interaction of Fas with intracellular mediators of apoptosis and is responsible for the autoimmune manifestations of ALPS and the abnormal lymphocytosis and eosinophilia in this patient.
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.
TLDR
Investigation of 10 patients and their relatives with Fas mutations revealed that all had defective lymphocyte apoptosis and most had other features of ALPS, implicate a role for Fas-mediated apoptosis in preventing B-cell and T-cell lymphomas.
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.
TLDR
A novel family with ALPS is described in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis, but only one developed severe autoimmune manifestations.
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.
TLDR
It was found that lymphoproliferative manifestations resolved with age, whereas immunological disorders persisted, suggesting that Fas-mediated apoptosis plays a more important role in lymphocyte homeostasis in early childhood than later on in life.
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