3 rezultatet
Antenatal diagnosis is now available for most severe inherited immune deficiencies. Several techniques are used: the development of methods for sampling fetal tissue as soon as the tenth week of gestation has made possible the antenatal diagnosis of immune deficiencies associated with detectable
We report two adult siblings with Chédiak-Higashi syndrome presenting as hyperpigmentation of the skin and the iris. Patient 1 was a 30-year-old man who had generalized hyperpigmentation from one month of age, developed mental deterioration at age 9 years, and gait difficulty at age 20 years. On
Skin manifestations are prevalent in primary immunodeficiency disorders (PID). In a large proportion of patients, they manifest as presenting signs and serve as important factors for the early diagnosis of PID. Only a few studies describing the spectrum of skin disorders in PID are available. The