1Dipartimento di Pediatria, Università “Federico II”, Napoli
2Clinica Pediatrica, Università “La Sapienza”, Roma
3Clinica Pediatrica 1a, Università di Milano
4Dipartimento di Biomedicina dell’Età Evolutiva, Università di Bari
5International Centre for Genetic Engineering and Biotechnology, Trieste
6Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
Key words: CGD, Molecular genetics
This is a comprehensive review article aimed at providing to paediatricians the basic knowledge on CGD and at improving the quality of care of patients affected by this rare disorder of cellular immune response. Since early diagnosis is very important, signs and symptoms that should lead paediatricians to suspect a CGD are illustrated. A diagnostic approach based on first level screening investigations and second level confirmatory tests is also suggested. The biochemical and molecular features of the disease are analyzed, as they provide the basis for understanding the clinical etherogeneity of the disease, as well as the innovative therapeutic strategies that are being at present evaluated.
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