الفهرس 
Introduction &Aim of the workOnly 14 pages are availabe for public view
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Abstract
Primary immunodeficiency disorder (PID) refers to a heterogeneous group of disorders characterized by poor or absent function in one or more components of the immune system. It is a cluster of disorders that share a common theme of excessive susceptibility to infection and other associated clinical problems. These serious episodes of infection markedly impair the patients’ ability to lead a normal life.
Primary immunodeficiency disorders (PID) are classified into eight major categories according to the component of the immune system primarily involved:
1. Combined T-cell and B-cell immunodeficiency
2. Predominantly antibody deficiencies
3. Other well defined immunodeficiency syndromes
4. Diseases of immune dysregulation
5. Congenital defects of phagocyte number and function
6. Defects in innate immunity
7. Auto inflammatory disorders
8. Complement deficiencies.
In the present study, we use the 10 warning signs elicited by (ESID) as strong predictors for diagnosis and determination of type primary immune deficiency disorders in the neonate and children below five years old presented to sohag university hospital by one or more sign of them according to International Union of Immunological Societies (IUIS) Expert Committee for Primary immunodeficiency Classification.
PID was established in 41cases; 54% of the studied patients. The phagocytic disorders were the most elicited type 9 cases; 22% with severe congenital neutropenia 5 cases; 55.5% of them.
The mean age of PID patient at the time of participating and diagnosis in our study was 25 month, the mean age of PID patients at the onset of symptoms in our study was 11month and the rang of the diagnostic lag or delay was 0 to 48 month.
Parental consanguinity and a history of sibling death were significant warning signs in our study. It was 80.5% and 37% respectively among our PIDs patients. Positive family history of PID was present in 34% of PID patients.
The mortality rate was reported in 21% of the studied patients and 22% of the PIDs with 100% death in CID patients.
The most common presenting disease at diagnosis was pneumonia. It was present in 58% of all studied patients and 51% of PID patients. It was the only presenting disease 100% of patient with primary antibodies deficiency. It was followed by deep seated abscess which is present in 19% of PID 44% in patients with phagocytic disorder.
Our data showed that the need to use of antibiotics for two or more months is the most frequent sign of ten warning signs of PID. It is present 73.6% of all included cases of the study and 68% in PIDs patients. It was followed by the need of intravenous antibiotics to clear infections present in 69.7% of all cases of the study and 65.8% of PIDs patients. Two or more pneumonic attacks within one year were present in 46% of PIDs with significant presence in patients with primary antibodies deficiency 100%.
The Pneumococci was the most common organism isolated in cases with positive culture 27.4% followed by staphylococci 24.1% then streptococci and klebsilla 8%.
Significant positive blood culture was present in PIDs than non PIDs. Positive culture was present in 100% CID, CID with specific syndrome, phagocytic disorders and complement disorders 87.5% of predominant antibodies and immune dysregulation
In conclusion, primary immune deficiency disorders must be excluded in patients presented with one or more sign of ten warning signs of PID specially the need of intravenous antibiotics for two or more months to clear infection with special concern to positive consanguinity and a history of sibling death.
Recommendations
We recommend raising the index of suspicion of PID among patients presented with one or more sign of the ten warning signs of PID as high index of suspicion is still the mainstay for diagnosis of PID.
Absence of the 10 warning signs must not exclude PID diagnosis if clini¬cally suspected and early referral to a specialized center should be considered.
Early detection of PID disorders is very important for preventing significant disease associated morbidity and even mortality.
It is essential to establish population-based neonatal screening of severe life-threatening PID diseases for reduction in the delay of diagnosis to improve survival rates also by increasing the awareness of risk factors and the clinical presentations of PID among the public and physicians.
It is essential to recommend genetic counseling before marriage and pregnancy in addition to improving awareness of families with known disease of PIDs.
Development of fully specialized/integrated immunology units with physicians, nurses, dietitians, social workers, and proper isolation facilities is essential for patients to receive a high standard of care. In addition, specialized immunological laboratory tests should be readily available in our government to facilitate early diagnosis and management of PID patients.