Version 0.1.0 of ICDPIC-R undoubtedly will have unexpected practical deficiencies, which users are encouraged to identify and communicate to the authors.
Recently, a series of studies demonstrated an unexpected observation that deficiency in TCR signaling components may manifest immunodeficiency that accompanies autoimmunity, inflammatory diseases, and/or increased IgE production.
However, characterization of these mice also led to an unexpected discovery: a deficiency of Sec24A causes abnormally low levels of low-density lipoproteins in the blood (hypocholesterolemia) as a result of elevated levels of LDL receptors in the liver.
Another unexpected effect of ABCA12 deficiency was a fall in abundance of LXRβ; overexpression of LXRβ reversed the effects of ABCA12 deficiency.
We first compared naïve wild type (WT) and Tpl2-/-mice, as well as WT and Tpl2-/-mice ventilated for 4 h with normal tidal volume (VT), to exclude any unexpected effect of Tpl2 deficiency on lung mechanics, response to anesthesia, or normal-VT ventilation.
Although cobalamin concentrations were not significantly associated with arsenic metabolism, this finding was not unexpected because a) cobalamin deficiency is relatively rare in this region, where vegetarianism is uncommon, and b) cobalamin-deficient participants were excluded from the study on arsenic metabolites.
The predominance of ETC complex I deficiency is not unexpected and has been noted in cohorts of non-autistic patients with mitochondrial cytopathies [52].
Thus, the absence of a more profound consequence of the double deficiency is not unexpected given the primacy of p56Lck in positive regulation of TCR signaling.
The specific visual phenotype resulting from AE3 deficiency, however, is unexpected, considering that the AE3 anion exchanger is expressed in other excitable tissues such as the heart and brain.
This includes variation within CFH (not unexpected from observations from complement deficiency states) and within the CFHR protein family (unexpected).
