OBJECTIVES To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. DESIGN Retrospective study. SETTING University teaching hospital, Hong Kong. PATIENTS Children diagnosed with primary immunodeficiency and followed up in the immunology clinic during the period 1988 to 2003. MAIN OUTCOME MEASURES Demographic data, co-morbidities and treatment...

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal fai...

Two male cousins developed symptoms and signs of Addison's disease at age 3 weeks. The family history indicates that their disorder is inherited as an X-linked recessive.

primary immunodeficiencies (pid) are a group of disorders, characterized by an unusual susceptibility to infections. delay in diagnosis results in increased morbidity and mortality in affected patients. the purpose of this study was to determine the mortality rate of iranian immunodeficient patients referred to children medical center hospital affiliated to tehran university of medical sciences...

  Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...