Özet:

Primary immune deficiencies are clinically and epidemio­logically important, despite their low prevalence, due to the associated risk of high morbidity and mortality. Most commonly encountered primary immune deficiencies include humorous immune system deficiencies, cellular immune system defects, combined immune deficiencies, phagocyte system defects, complement system defects. Classical clinical findings of immunodeficiences include recurrent, severe infections which do not respond to treatment or which progress with complications as well as the tendency to develop infections with low virulence microorganisms. Moreover, they may present with autoimmunity, autoinflammatory or hemaphagocytic syndrome. Congenital diseases usually start in early childhood and lead to morbidity and mortality. Therefore, early diagnosis may be life saving and allow increasing quality of life, genetic counseling or prenatal diagnosis. Considering primary immune deficiencies more frequently in differential diagnosis and early immunological evaluation would lead to early diagnosis of these patients and allow them to reach early treatment or preventive measures.

Anahtar Kelimeler: