OBJECTIVES We aimed to investigate the activity of ADA and its isoenzymes in serum of patients with various primary immunodeficiency (PID) syndromes. DESIGN AND METHODS Total ADA (tADA) and its isoenzymes were measured in 76 children with PID syndromes and 30 healthy controls using the Ellis method. RESULTS Our results indicated that tADA and ADA2 levels were higher in patients with Chronic...

The kindlin (or fermitin) family of proteins comprises three members (kindlin-1,-2 and -3) of evolutionarily conserved focal adhesion (FA) proteins, whose best-known task is to increase integrin affinity for a ligand (also referred as integrin activation) through binding of β-integrin tails. The consequence of kindlin-mediated integrin activation and integrin-ligand binding is cell adhesion, sp...

recombinant human growth hormone (hgh) was given for 6 months or longer to 68 patients with gh deficiency, 6 with turner's syndrome and 5 with achondroplasia, during 1986-1994 in a prospective study. the total weekly administered dose of gh was 0.6 u/kg. by random sampling, 29 of 68 gh deficient patients (42.6%) received twice weekly (2 iw) intramuscular (im) injections, 17 (25%) received ...

We have identified four different mutations causing leukocyte adhesion Deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also charact...

In this issue, Willenbrock et al. (1) address how leukocytes achieve deceleration during rolling and arrest on endothelium in the vasculature near tissue sites of inflammatory insult. While cell capture from the blood stream and rolling is largely the functional domain of selectin adhesion receptors that are constitutively expressed on leukocytes and rapidly deployed on endothelium to bind glyc...

Abstract: Infantile Tremor Syndrome is a clinical state, characterized by anemia, skin depigmentation, tremors and developmental delay in children between age 5 months to 3 years. Nutritional deficiency one of the most accepted theories, usually seen among breastfeeding vegetarian mothers. The present case report describes demographic, clinical, laboratory profile treatment outcome infantile tr...

background: given the relationship of vitamin d deficiency with insulin resistance syndrome as the component of polycystic ovary syndrome (pcos), the main aim of this study was to compare serum level of 25- hydroxyvitamin d [25(oh)d] between pcos patients and normal individuals. materials and methods: a cross sectional study was conducted to compare 25(oh)d level between117 normal and 125 untre...

BACKGROUND While primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka. METHODS Nine hundred and forty two patients with recurrent infections and features sug...