Редактирование: TPP2 (раздел)

==Publications==

{{medline-entry
|title=Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/25414442
|abstract=Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II ([[TPP2]]) abolishing protein expression. [[TPP2]] is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected [[TPP2]]-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8( ) T-cells had a senescent CCR7-CD127(-)CD28(-)CD57( ) phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21(-) CD11c( ) phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine [[TPP2]]-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. [[TPP2]] deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias. 
|mesh-terms=* Aging
* Aminopeptidases
* Anemia, Hemolytic, Autoimmune
* Animals
* Apoptosis
* Base Sequence
* CD8-Positive T-Lymphocytes
* Child
* Child, Preschool
* Consanguinity
* Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
* Female
* Fibroblasts
* Frameshift Mutation
* Gene Expression
* Humans
* Immunologic Deficiency Syndromes
* Male
* Mice
* Mice, Knockout
* Molecular Sequence Data
* Perforin
* Serine Endopeptidases
* Siblings
* T-Box Domain Proteins
* T-Lymphocytes
* Thrombocytopenia

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463807
}}