Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to exc...

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling ...

The mold Neurospora crassa does not accumulate porphyrins in iron deficiency but instead accumulates the sideramine desferricoprogen. In iron deficiency there is an accumulation of &aminolevulinic acid and the d-aminolevulinic acid dehydratase level is very low. A similar situation exists in cobalt toxicity and zinc deficiency. The b-aminolevulinic acid synthetase and ferroprotoporphyrin chelat...

bronchiectasis is a chronic debilitating condition characterized by abnormal dilated thick-walled bronchi. to investigate humoral immune function in bronchiectatic patients, this study was performed . forty patients with established diagnosis of bronchiectasis, who were referred from two tertiary care pulmonology centers in tehran, were investigated in this study. immunoglobulin isotypes concen...