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Abstract
Primary immunodeficiency diseases
(PIDs) constitute a great burden on
medical services especially if the
diagnosis is delayed and complications
happened. The incidence of all PIDs ranges from 1/2000-1/10000 , and most of
developed countries had official
registration programs for primary
immunodeficiency patients to facilitate
their care with the aim of early diagnosis, prophylactic treatment of infection and avoidance of complications.
The absence of official registration in the developing countries leads to
underestimation of PIDs incidence, delayed diagnosis, and increased morbidity due to c o m p l i c a t i o n s . P r i m a r y hypogammaglobulinemia accounts for more
than 50% of all PIDs, and one of its main causes is common variable immunodeficiency(CVID).
The advance in molecular medicine and
genetic sciences offers a great help to
understand the genetic bases of CVID and
most primary immunodeficiency disease. The estimated incidence of CVID is increased in the last decade due to the increase in medical awareness about PIDs, registration of cases , and the advance in diagnosis of genetic defects. C V I D incidence ranges from 1/10 000 to 1/25 000 in the most recent studies.
This watermark does not appear in the registered version - CVID and PIDs patients had increased rate of infection, especially respiratory
and gastrointestinal infection, autoimmune diseases, lymphoid cancer, and hematological diseases as thrombocytopenia and hemolytic anemia. All CVID patients presents by the similar clinical picture of complications with varying severity,
but there is difference in genetic causes which may be polygenetic or involves a single gene defect . The delay in diagnosis and treatment of CVID and PIDs leads to increase in morbidity, mortality, and suffering of the patients due to complications. The early discovery improves the patient’s prognosis and reserved medical efforts.