Clinical spectrum and challenges of Primary Immunodeficiency disorders in Egyptian children

Abstract

Primary Immunodeficiency Disorders (PID) are inherent defects of the immune system that may present in infants and children. The main presentations include increased susceptibility to infections (a narrow or broad spectrum of pathogens), autoimmunity, autoinflammation, allergy and/or malignancy. PIDs are increasingly diagnosed and may present with different phenotypes that range from subtle to severe ones. They are classified into ten major categories according to the International Union of Immunological Societies (IUIS). Autosomal recessive disorders are noticeably more common because of the high consanguinity rates in the society. The spectrum of PID is highlighted with a brief walk through the challenges of establishing a PID service in a resource limited setting like catching up with the rapidly changing field, provision of state of the art diagnostic services and actual provision of medical care to PID patients. Several opportunities for growth of the field and overcoming obstacles are discussed.

Keywords

• primary immunodeficiency disorders
• recurrent infections
• spectrum