The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a deficiency in the Cog1 subunit of the complex. This patient has a defect in both N- and O-glycosyla...

Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax II, indicating a concomitant specif...

magnesium (mg) deficiency has not usually been considered in clinical practice due to lack of relevant blood tests and because the symptoms are often vague and nonspecific. serum concentrations may not adequately reflect mg status. mg loading test (mlt) can provide infonnation on total body mg stores. we prospectively studied 21 critically ill patients (10 male, 11 female) admitted to the icu, ...

cd8 deficiency is a rare primary immunodeficiency with low or absent peripheral cd8 cells which results from tap deficiency, zap 70 deficiency and cd8 α gene mutation. we report a 14 year old female who presented with a history of recurrent pneumonia, bronchiectasis, otitis, severe varicella, herpetic lesions of mouth, bilateral uveitis, and cataract formation since the age of 8 years. she had ...

The role of peroxiredoxin (Prx) I as an erythrocyte antioxidant defense in red blood cells (RBCs) is controversial. Here we investigated the function of Prx I by using Prx I(-/-) and Prx I/II(-/-) mice. Prx I(-/-) mice exhibited a normal blood profile. However, Prx I/II(-/-) mice showed more significantly increased Heinz body formation as compared with Prx II(-/-) mice. The clearance rate of He...

Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typical...

AIMS Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of lipophagy, the expression of the transcription factor-EB (TFEB) (a master regulator of lysosomal biogenesis), and markers of autophagy which are induced by starvation and exert a transcriptional control on lipid catabolism. METHODS We investigated the factors that r...