A red baby should not be taken too lightly

Research output: Contribution to journalArticlepeer-review

Abstract

Aim: To identify clinical and laboratory features that can drive the differential diagnosis of a primary immunodeficiency diseases in patients with ectodermal defects. Methods: Analysis of selected teaching cases. Results: We identified four exemplary cases that allowed to point out specific clues. Conclusions: A careful evaluation of immune and ectodermal signs is the key to the diagnosis. Therefore, a multidisciplinary approach can lead to diagnosis and to an appropriate treatment in most of the cases.

Original languageEnglish
JournalActa Paediatrica, International Journal of Paediatrics
Volume101
Issue number12
DOIs
Publication statusPublished - Dec 2012

Keywords

  • Dermatological features
  • FOXP3
  • IKK-gamma
  • Primary Immunodeficiency Diseases (PID)
  • RAG1
  • RAG2
  • SPINK5

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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