Özet:

Primary immunodeficiency disorders (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system. To date, more than 300 different PIDs have been identified, most of these manifesting by 1 year of life. Recognition of these disorders by the clinician is important because appropriate therapy will not only prevent death but also reduce the long-term morbidity from recurrent infections. There is often under diagnosis of these conditions or a delay in the diagnosis of treatable conditions. Delay in the diagnosis of PID disorders is not only evident in undeveloped or developing countries, but is also reported in developed countries. On the other hand, early diagnosis and easy access to care and treatment play key roles in improving the survival, quality of life, and prognosis of patients with these disorders. Evaluation of immune function should be initiated for children with clinical manifestations for a specific immune disorder or with unusual, chronic, or recurrent infections such as systemic bacterial infections, serious respiratory bacterial infections, liver or brain abscesses, infections with unusual pathogens, and infections with common childhood pathogens but of unusual severity. No study regarding the pattern of diseases, clinical profile, complications and outcomes of primary immunodeficiency diseases has been done in Kashmir, which is geographically, socially, culturally, and ethnically a unique population. This study will through some light on the spectrum of primary immunodeficiency Disorders (PID) in this part of the world and help policy makers to set up an ideal platform for the management of these comparatively ignored but important diseases.

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