Cycle Ride

NEMO is the name of a gene that regulates functions of the immune system. NEMO is like a “master switch” that is found on the cell of the human body and regulates signals between the cell membrane and the cell nucleus. NEMO is expressed in almost all tissue cells. If NEMO is not present life is not possible. NEMO stands for Nuclear Factor Kappa B Essential Modulator.

Molecular Diagnostics for Primary Immunodeficiency Diseases

Primary immunodeficiency diseases (PIDs) are a group of over 100 genetic disorders which affect the immune system and impair the body’s ability to fight infection. There has been rapid progress in understanding PID in recent years and the genes are now known for the majority of the well-described primary immunodeficiency diseases. This information has come largely out of a research setting and has not as yet been translated into NHS laboratories with full quality accreditation and turnaround times for testing for defects in these genes within clinically relevant time frames. This means that there is great difficulty for Immunologists and patients in getting diagnostic tests performed as research laboratories may have very different priorities from established accredited diagnostic laboratories. Currently there are approximately 10 of the more than 100 genes which can be diagnosed in the NHS and these are largely for severe combined immunodeficiency. We propose in collaboration between Immunology and Medical Genetics at the University Hospital of Wales in Cardiff to establish a diagnostic molecular genetics testing service for PID focusing on predominantly antibody deficiencies as these account for the majority of PID patients and are currently not available in accredited NHS laboratories. The first two genes which we will address for clinical reasons are TACI which may account for 10-15% of common variable immunodeficiency cases (the commonest severe antibody deficiency) and NEMO as there is a local and national need for this. The aim would be to open this service for all of the other UK immunology centers once it has been established and registered with the appropriate genetic testing authorities in the UK. The ability to accurately diagnose these disorders is of importance not only for prognosis but also carrier detection in family members and antenatal screening.