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Hence, studies on acinar cell cultures from patients with Sjögren's syndrome and biopsies indicate an aberrant expression and activation of inflammatory mediators together with defective activity of key enzymes involved in saliva secretion [ 4- 6].
It was reported that defective activity of this complex causes repair defect in patients with xeroderma pigmentosum (XP), an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas [15,36].
However, quantitative PCR performed on isolated Treg cells, on cells obtained from co-cultures (Treg plus Teff plus ACs) and on splenocytes from immunised IFN-γR KO and wild-type mice does not support the concept that the defective activity of Treg cells in vitro or in vivo is due to defects in the production of TGF-β.
We have become expert in tracingchemical imbalances and the defective activity of our myriadof neurotransmitters.
Gaucher disease (GD) is characterized by glucocerebroside (GC) accumulation due to defective activity of the glucocerebrosidase (GlcCerase) enzyme.
LOGM2G results from the defective activity of the lyosomal enzyme β-hexosaminidase A. Continued accumulation of undegraded substrate results in pathology in the central nervous system.
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However, the underlying mechanism(s) by which impaired MAMLD1/Mamld1 leads to compromised T production remains to be clarified, although there are several possibilities such as defective activities of enzyme(s) involved in T production and compromised proliferation of Leydig cells.
Rather than a true functional defect, defective suppressive activity could reflect increased resistance of responder T cells to suppression or increased costimulatory activity of antigen-presenting cells (Table 2).
To screen for mutants with a defective locomotor activity rhythm and to further characterize new activity mutants, stocks were raised at 25°C in LD 12∶12.
Similarly, the Treg cells identified as CD45RA+FoxP3low by Pan et al. [ 13] were expanded in active SLE but with a defective suppressive activity [ 13].
Defective AP1 activity thus hampers the NFAT action on IL2 transcription.
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