TAP deficiency syndrome

TAP deficiency is also a cause of bronchiectasis.

We read with interest the recent bronchiectasis review by Whitters and Stockley. The authors provide a comprehensive overview of the changes in the immune response that might favour bacterial colonisation of the lower airways and in a second step initiate the vicious cycle leading to chronic inflammation and recurrent infections. Their description of the innate immune system in the lung include...

Deficiency Syndrome

Coenzyme Q 10 (CoQ 10 ) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ 10 d...

Tap, tap, tap to better patient documentation.

Dr. Greg Hinson is in the minority. He's among the meager 13 percent of physicians in solo practice who use electronic medical records, according to a recent Commonwealth Fund survey. But Hinson is comfortable being apart from the madding crowd. He knew electronic record keeping would be the ticket to efficiencies in his practice so he traded in his hodgepodge of inadequate record-keeping techn...

A FSH-Secreting Pituitary Macroadenoma Causing A Testosterone Deficiency Syndrome

Syndrome with IgA Deficiency

Autosomal deletion syndromes are of great interest since measurable loss of genetic material could lead to the mapping of the human autosomes. Short arm deletions and long arm deletions of chromosome 18 have been described in association with phenotypic changes (Grouchy et al., 1963, 1964) and reviewed recently by Wolf et al. (1967) and Reinwein, Ritter, and Wolf (1967). Since a ring chromosome...