We generated purine nucleoside phosphorylase (PNP)-deficient mice to gain insight into the mechanism of immune deficiency disease associated with PNP deficiency in humans. Similar to the human disease, PNP deficiency in mice causes an immunodeficiency that affects T lymphocytes more severely than B lymphocytes. PNP knockout mice exhibit impaired thymocyte differentiation, reduced mitogenic and ...

Background: Vitamin D (VitD) plays a significant role in human health, survival, and fertility. It is necessary for calcium absorption and bone growth and the regulation of the immune system. This study aims to determine the prevalence of VitD deficiency and the factors affecting it in women working in the campus of Gonabad University of Medical Sciences, Gonabad City, Iran. Methods: In this c...

CHARGE association is the sporadic, non-random concurrence of Coloboma of the eye, Heart anomalies, choanal Atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spect...

The immune system is critical in preventing infection and cancer, and malnutrition can weaken different aspects of the immune system to undermine immunity. Previous studies suggested that vitamin B6 deficiency could decrease serum antibody production with concomitant increase in IL4 expression. However, evidence on whether vitamin B6 deficiency would impair immune cell differentiation, cytokine...

OBJECTIVE To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID). STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011. METHODOLOGY Thirteen infants who were discharged with a diagnosis of SCID were inducted in...

Recurrent meningitis in children is unusual and usually associated with a predisposing factor like immune-deficiency disorder or cranio-spinal defect. We report a case of recurrent meningitis in association with Common Variable Immune deficiency.

Hereditary angioedema (HAE) is well documented condition with inherited deficiency or dysfunction of C1 inhibitor. However, its association other immune disorders such as autoimmunity, malignancy and primary immunodeficiency not known.