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[Prenatal diagnosis of severe and hereditary immune deficiencies].

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Prijava / prijava

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

[Two adult siblings with Chédiak-Higashi syndrome presenting as hyperpigmentation of the skin and the iris].

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Prijava / prijava

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 in primary immunodeficient children.

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Prijava / prijava

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

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Herbal & Natural Medicine

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