X-linked congenital Addison's disease.

X-linked congenital Addison's disease.

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.

Possible X-linked congenital heart disease.

Four male members of a family are known to have congenital mitral and aortic insufficiency, a fifth male has congenital mitral insufficiency only, and a sixth male had congenital heart disease by history. The involved males comprised all males in three generations of this family. Chromosomal and dermatoglyphic studies of the two living affected males are normal. The involvement of males in this...

Congenital adrenal hypoplasia--an X-linked disease.

Appendicectomy Complicated by Addisons Disease

requiring admission to ICU. Case report: A 33 year old male presented with a fifteen-hour history of vomiting, diarrhoea, and lower abdominal pain one week after a holiday in Portugal. He had no significant past medical history. On examination he had a tanned appearance, and was tender with guarding and rebound in the right iliac fossa. Rovsing’s sign was positive. He proceeded to theatre where...

X-Linked Lymphoproliferative Disease

2B4 is a surface molecule involved in activation of the natural killer (NK) cell-mediated cytotoxicity. It binds a protein termed Src homology 2 domain-containing protein (SH2D1A) or signaling lymphocyte activation molecule (SLAM)-associated protein (SAP), which in turn has been proposed to function as a regulator of the 2B4-associated signal transduction pathway. In this study, we analyzed pat...