Studies of Primary Immunodeficiency Syndromes

أمراض نقص المناعه الأولية عبارة عن مجموعه من الامراض الوراثية التي تؤدي الى خلل في وظيفة جهاز المناعه.نتيجه للتطور الكبير في الطب الجزييئ زالحيوي، تم اكتشاف مجموعة كبيرة من امراض نقص المناعة الأولية. اثبتت الدراسات بأن امراض نقص المناعه الأولية شائعه نسبيا في الكويت وذلك نتيجه زواج الاقارب. لقد تم التعرف على مجموعه من المرضى في الكويت والذين يعانون من امراض نقص مناعه اوليه جديده وجاري البحث عن الجينات المسببه لهذه الامراض. بالاضافه الى ذلك جاري تجميع عدد من المرضى في السجل الوطني لامراض نقص المناعه الاوليه وكذلك تم نشر بحثين علميين عن امراض نقص المناعه الاوليه في الكويت.

Primary immunodeficiency diseases (PIDs) include a heterogeneous group of conditions that affect development and/or function of the immune system. Most forms of PIDs are inherited as Mendelian traits. In previous years, advances in genetics and cell biology have permitted to define the molecular basis and the pathophysiology of several new forms of PIDs. Previous work has shown that PIDs are relatively common in Kuwait due to the high rate of consanguineous marriages. We have identified few families with novel clinical and immunologic phenotypes. We continued working on the three previously identified families using whole genome sequencing (WGS) and immunologic assays to better characterize them. A novel gene-causing PID was identified in one family and work is in progress to confirm that another two genes are disease-causing in the other families. In addition, we identified a new family with novel disease which will be the subject of further testing. Moreover, we continue to enroll patients in Kuwait National Primary Immunodeficiency Disorders Registry (KNPIDR) and we have published a manuscript about DOCK8 deficiency in Kuwait. The first case of Omenn syndrome was reported in a patient with reticular dysgenesis.