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Keywords:

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

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.