Dr. Madleen Jawad Sobhe Abu Aser*, Dr. Amjad Alanqar and Prof. Abdalkarim Radwan


Severe combined immunodeficiency syndrome (SCID) is a rare genetic disorder characterized by defective or absent T cell and B cell function. Patients usually present in the first 6 months of life with sepsis, disseminated tuberculosis following BCG vaccine, candidiasis, pneumocystis carinii pneumonia, severe viral infections, chronic diarrhea, failure to thrive and malabsorption. Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders that result from defects in immune system development and function. PIDs are broadly classified as disorders of adaptive immunity T cell, B-cell or combined immunodeficiency or innate immunity phagocyte and complement disorders. Although the clinical manifestations of PIDs are highly variable, many disorders involve an increased susceptibility to infection. Early consultation with a clinical immunologist is essential, as timely diagnosis and treatment are imperative for preventing significant disease-associated morbidity. PIDs should be suspected in patients with recurrent sinus or ear infections or pneumonia within a 1 year failure to thrive, poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. Patients with multiple autoimmune diseases should also be evaluated. Diagnostic testing often involves lymphocyte proliferation assays, flow cytometry, measurement of serum immunoglobulin (Ig) levels, assessment of serum specific antibody titers in response to vaccine antigens, neutrophil function assays, stimulation assays for cytokine responses, and complement studies. The treatment of PIDs is complex and generally requires both supportive and definitive strategies. Ig replacement therapy is the mainstay of therapy for B-cell disorders and is also an important supportive treatment for many patients with combined immunodeficiency disorders. The disorders affecting the activity of the T-cell arm of the adaptive system, such as severe combined immunodeficiency, require immune reconstitution as soon as possible. The treatment of innate immunodeficiency disorders varies depending on the type of defect but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and bone marrow transplantation. This article provides an overview of the major categories of PIDs and strategies for the appropriate diagnosis and management of these rare disorders.

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