… Here, we review the main clinical aspects and the molecular basis of primary C3 deficiency
as … C3 deficiencies. We also discuss the use of animal models to study these deficiencies. …

… be curative in patients with severe combined immune deficiency syndrome (SCID). In other
PIDs, … of the molecular basis of the disorder will secure the diagnosis. We believe molecular …

… Molecular lesions in specific IgG subclass genes have been described in only a few rare
individuals. The molecular basis … The great majority of patients with primary immuno-deficiency …

… Therefore we compared the supernatant of primary fibroblast cultures from the patient and
a normal individual with that of a hepatoma cell line (Hep G2). After metabolic labeling, we …

… basis of many of these has now been determined. Antibody deficiencies constitute the largest
group within the primary … Recent studies have outlined aspects of the molecular basis of T-…

… deficiency have been found in the majority of patients with hereditary spherocytosis (HS), a
combined severe deficiency of … To elucidate the molecular basis of these protein deficiencies, …

… for molecular base of complex I deficiency is described and the findings in a research cohort
of patients with complex I deficiency … defect causing complex I deficiencies is important for a …

Primary immunodeficiencies comprise a large group of diverse disorders. Figure 1 schematically
depicts antibody defects caused by inherent B lymphocyte abnormalities, as well as …

Although primary immune deficiencies (PIDs) are thought to be rare, it is … deficiencies, clinical
evaluations for suspected deficiencies, and understanding the genetic and cellular basis of …

… with primary C5 deficiency have been reported. In spite of this, the molecular basis has only
… In the present study we investigated two unrelated Caucasian probands with C5 deficiency …