Diabetes mellitus (DM) is characterized by either complete deficiency of insulin secretion as in type 1 DM(T1DM) or decompensation of the pancreatic β-cells in type 2 DM(T2DM).
The disease is an excellent candidate for gene replacement therapy as the majority of mutations have been shown to lead to a complete deficiency of the secreted protein in the retinal structures.
Prolonged drinking that interferes with an adequate diet may lead to Wernicke disease, which results from an acute complete deficiency of thiamin (vitamin B1) and is marked by a clouding of consciousness and abnormal eye movements.
An ultrasound scan confirmed complete deficiency of the patella tendon.
T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.
Dectin-1 is the main β-glucan receptor, and patients with a complete deficiency of either dectin-1 or its adaptor molecule CARD9 display persistent mucosal infections with Candida albicans.
Complete deficiency of ADNP in mouse embryos results in changes in gene expression profile [45].
All clones displayed normal morphology (Fig. 1D, left panel) and growth, demonstrating that transgenic expression of frataxin rescues the lethality associated with complete deficiency of endogenous frataxin.
Genotype/phenotype studies in patients with hoFH indicated the potential for efficacy in those with complete deficiency of LDLR following less than complete genetic reconstitution from gene therapy [9], [10], [33].
We have recently described a patient suffering from recurrent infections and obstructive lung disease that was homozygous for the FCN3 + 1637delC mutation, resulting in complete deficiency of Ficolin-3 [22].
