SCIDoireyhtymän

SCIDoireyhtymä, also known as Severe Combined Immunodeficiency (SCID), is a group of rare genetic disorders characterized by a severe deficiency in the development and function of both T lymphocytes and B lymphocytes, which are crucial components of the immune system. This makes individuals with SCID highly susceptible to infections from bacteria, viruses, and fungi that would typically be harmless to healthy individuals. Without effective adaptive immunity, even common illnesses can be life-threatening.

There are various subtypes of SCID, each caused by different genetic mutations affecting the development or function of lymphocytes. These mutations can impact the production of cytokines, the signaling pathways involved in immune cell development, or the ability of immune cells to function properly. The inheritance pattern is typically autosomal recessive, meaning a child must inherit a faulty gene from both parents to be affected.

Symptoms of SCID usually appear within the first few months of life and can include recurrent severe infections, failure to thrive, chronic diarrhea, and opportunistic infections. Diagnosis is often suspected based on clinical presentation and confirmed through immunological testing, which measures the number and function of T and B cells. Newborn screening programs for SCID are becoming more widespread, allowing for earlier detection and intervention.

The primary treatment for SCID is hematopoietic stem cell transplantation (HSCT), which aims to replace the defective immune system with a healthy one. Gene therapy is also being explored as a potential treatment option for some forms of SCID. Early diagnosis and prompt treatment are critical for improving outcomes and survival rates for individuals with SCIDoireyhtymä.