Genetic immunodeficiency disorders

Amy S. Paller*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations

Abstract

In this review, selected immunodeficiency disorders are presented in which the cutaneous signs are distinctive and contribute to the diagnosis of the condition. Among these cutaneous abnormalities are alopecia, cutaneous granulomas, cutaneous infections, atopic-like or seborrheic-like dermatitis, petechiae or purpura, silvery pigmentation, poor wound healing, and telangiectasias. Immunodeficiency should be considered in children with a history of infections that are recurrent, respond poorly to antibiotics, are of increased duration and severity, and/or result from unusual organisms. In addition to their high risk of infection, patients with immunodeficiency disorders have a risk of the development of malignancy that is 10,000 times higher than that of healthy age-matched controls. The underlying molecular basis for most genetic immunodeficiencies is now understood, allowing improved genetic counseling and prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)68-77
Number of pages10
JournalClinics in Dermatology
Volume23
Issue number1
DOIs
StatePublished - 2005

ASJC Scopus subject areas

  • Dermatology

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